subject:(Neurologia)

University of Helsinki

1. Keski-Säntti, Petra. Occupational chronic solvent encephalopathy in Finland 1995 - 2007 : incidence and diagnostic methods.

Degree: Institute of Clinical Medicine; Finnish Institute of Occupational Health, 2011, University of Helsinki

URL: http://hdl.handle.net/10138/26416

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The occurrence of occupational chronic solvent encephalopathy (CSE) seems to decrease, but still every year reveals new cases. To prevent CSE and early retirement of… (more)

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The occurrence of occupational chronic solvent encephalopathy (CSE) seems to decrease, but still every year reveals new cases. To prevent CSE and early retirement of solvent-exposed workers, actions should focus on early CSE detection and diagnosis. Identifying the work tasks and solvent exposure associated with high risk for CSE is crucial. Clinical and exposure data of all the 128 cases diagnosed with CSE as an occupational disease in Finland during 1995-2007 was collected from the patient records at the Finnish Institute of Occupational Health (FIOH) in Helsinki. The data on the number of exposed workers in Finland were gathered from the Finnish Job-exposure Matrix (FINJEM) and the number of employed from the national workforce survey. We analyzed the work tasks and solvent exposure of CSE patients and the findings in brain magnetic resonance imaging (MRI), quantitative electroencephalography (QEEG), and event-related potentials (ERP). The annual number of new cases diminished from 18 to 3, and the incidence of CSE decreased from 8.6 to 1.2 / million employed per year. The highest incidence of CSE was in workers with their main exposure to aromatic hydrocarbons; during 1995-2006 the incidence decreased from 1.2 to 0.3 / 1 000 exposed workers per year. The work tasks with the highest incidence of CSE were floor layers and lacquerers, wooden surface finishers, and industrial, metal, or car painters. Among 71 CSE patients, brain MRI revealed atrophy or white matter hyperintensities or both in 38% of the cases. Atrophy which was associated with duration of exposure was most frequently located in the cerebellum and in the frontal or parietal brain areas. QEEG in a group of 47 patients revealed increased power of the theta band in the frontal brain area. In a group of 86 patients, the P300 amplitude of auditory ERP was decreased, but at individual level, all the amplitude values were classified as normal. In 11 CSE patients and 13 age-matched controls, ERP elicited by a multimodal paradigm including an auditory, a visual detection, and a recognition memory task under single and dual-task conditions corroborated the decrease of auditory P300 amplitude in CSE patients in single-task condition. In dual-task conditions, the auditory P300 component was, more often in patients than in controls, unrecognizable. Due to the paucity and non-specificity of the findings, brain MRI serves mainly for differential diagnostics in CSE. QEEG and auditory P300 are insensitive at individual level and not useful in the clinical diagnostics of CSE. A multimodal ERP paradigm may, however, provide a more sensitive method to diagnose slight cognitive disturbances such as CSE.

Työperäisen liuotinaineaivosairauden esiintyvyys on viimeisten parinkymmenen vuoden aikana selvästi vähentynyt, mutta uusia tapauksia todetaan edelleen vuosittain. Väitöskirjassa on selvitetty liuotinaineaivosairauden ilmaantuvuutta vuosina 1995 2007 sekä missä työtehtävissä ja mille liuotinaineille altistuttaessa liuotinaineaivosairautta esiintyy. Lisäksi…

Subjects/Keywords: neurologia; neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Keski-Säntti, P. (2011). Occupational chronic solvent encephalopathy in Finland 1995 - 2007 : incidence and diagnostic methods. (Doctoral Dissertation). University of Helsinki. Retrieved from http://hdl.handle.net/10138/26416

Chicago Manual of Style (16^th Edition):

Keski-Säntti, Petra. “Occupational chronic solvent encephalopathy in Finland 1995 - 2007 : incidence and diagnostic methods.” 2011. Doctoral Dissertation, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/26416.

MLA Handbook (7^th Edition):

Keski-Säntti, Petra. “Occupational chronic solvent encephalopathy in Finland 1995 - 2007 : incidence and diagnostic methods.” 2011. Web. 24 Jan 2021.

Vancouver:

Keski-Säntti P. Occupational chronic solvent encephalopathy in Finland 1995 - 2007 : incidence and diagnostic methods. [Internet] [Doctoral dissertation]. University of Helsinki; 2011. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/26416.

Council of Science Editors:

Keski-Säntti P. Occupational chronic solvent encephalopathy in Finland 1995 - 2007 : incidence and diagnostic methods. [Doctoral Dissertation]. University of Helsinki; 2011. Available from: http://hdl.handle.net/10138/26416

University of Helsinki

2. Putaala, Jukka. Ischemic Stroke in Young Adults.

Degree: Institute of Clinical Medicine, Department of Neurology, 2010, University of Helsinki

URL: http://hdl.handle.net/10138/22741

► Stroke is the second leading cause of death and the leading cause of disability worldwide. Of all strokes, up to 80% to 85% are ischemic,… (more)

▼ Stroke is the second leading cause of death and the leading cause of disability worldwide. Of all strokes, up to 80% to 85% are ischemic, and of these, less than 10% occur in young individuals. Stroke in young adults—most often defined as stroke occurring under the age of 45 or 50—can be particularly devastating due to long expected life-span ahead and marked socio-economic consequences. Current basic knowledge on ischemic stroke in this age group originates mostly from rather small and imprecise patient series. Regarding emergency treatment, systematic data on use of intravenous thrombolysis are absent. For this Thesis project, we collected detailed clinical and radiological data on all consecutive patients aged 15 to 49 with first-ever ischemic stroke between 1994 and 2007 treated at the Helsinki University Central Hospital. The aims of the study were to define demographic characteristics, risk factors, imaging features, etiology, and long-term mortality and its predictors in this patient population. We additionally sought to investigate, whether intravenous thrombolysis is safe and beneficial for the treatment of acute ischemic stroke in the young. Of our 1008 patients, most were males (ratio 1.7:1), who clearly outnumbered females after the age of 44, but females were preponderant among those aged <30. Occurrence increased exponentially. The most frequent risk factors were dyslipidemia (60%), smoking (44%), and hypertension (39%). Risk factors accumulated in males and along aging. Cardioembolism (20%) and cervicocerebral artery dissection (15%) were the most frequent etiologic subgroups, followed by small-vessel disease (14%), and large-artery atherosclerosis (8%). A total of 33% had undetermined etiology. Left hemisphere strokes were more common in general. Posterior circulation infarcts were more common among those aged <45. Multiple brain infarcts were present in 23% of our patients, 13% had silent infarcts, and 5% had leukoaraiosis. Of those with silent brain infarcts, majority (54%) had only a single lesion, and most of the silent strokes were located in basal ganglia (39%) and subcortical regions (21%). In a logistic regression analysis, type 1 diabetes mellitus in particular predicted the presence of both silent brain infarcts (odds ratio 5.78, 95% confidence interval 2.37-14.10) and leukoaraiosis (9.75; 3.39-28.04). We identified 48 young patients with hemispheric ischemic stroke treated with intravenous tissue plasminogen activator, alteplase. For comparisons, we searched 96 untreated control patients matched by age, gender, and admission stroke severity, as well as 96 alteplase-treated older controls aged 50 to 79 matched by gender and stroke severity. Alteplase-treated young patients recovered more often completely (27% versus 10%, P=0.010) or had only mild residual symptoms (40% versus 22%, P=0.025) compared to age-matched controls. None of the alteplase-treated young patients had symptomatic intracerebral hemorrhage or died within 3-month follow-up. Overall long-term mortality was low in our…

Subjects/Keywords: neurologia; neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Putaala, J. (2010). Ischemic Stroke in Young Adults. (Doctoral Dissertation). University of Helsinki. Retrieved from http://hdl.handle.net/10138/22741

Chicago Manual of Style (16^th Edition):

Putaala, Jukka. “Ischemic Stroke in Young Adults.” 2010. Doctoral Dissertation, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/22741.

MLA Handbook (7^th Edition):

Putaala, Jukka. “Ischemic Stroke in Young Adults.” 2010. Web. 24 Jan 2021.

Vancouver:

Putaala J. Ischemic Stroke in Young Adults. [Internet] [Doctoral dissertation]. University of Helsinki; 2010. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/22741.

Council of Science Editors:

Putaala J. Ischemic Stroke in Young Adults. [Doctoral Dissertation]. University of Helsinki; 2010. Available from: http://hdl.handle.net/10138/22741

University of Helsinki

3. Soinne, Lauri. Carotid Stenosis, Endarterectomy, and the Brain : Brain microcirculation, diffusion, and cognitive function before and after carotid endarterectomy in patients with a high-grade carotid stenosis.

Degree: Institute of Clinical Medicine, 2009, University of Helsinki

URL: http://hdl.handle.net/10138/22861

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Carotid atherosclerotic disease is a major cause of stroke, but it may remain clinically asymptomatic. The factors that turn the asymptomatic plaque into a symptomatic… (more)

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Carotid atherosclerotic disease is a major cause of stroke, but it may remain clinically asymptomatic. The factors that turn the asymptomatic plaque into a symptomatic one are not fully understood, neither are the subtle effects that a high-grade carotid stenosis may have on the brain. The purpose of this study was to evaluate brain microcirculation, diffusion, and cognitive performance in patients with a high-grade stenosis in carotid artery, clinically either symptomatic or asymptomatic, undergoing carotid endarterectomy (CEA). We wanted to find out whether the stenoses are associated with diffusion or perfusion abnormalities of the brain or variation in the cognitive functioning of the patients, and to what extent the potential findings are affected by CEA, and compare the clinically symptomatic and asymptomatic subjects as well as strictly healthy controls. Coagulation and fibrinolytic parameters were compared with the rate microembolic signals (MES) in transcranial Doppler (TCD) and the macroscopic appearance of stenosing plaques in surgery. Patients (n=92) underwent CEA within the study. Blood samples pertaining to coagulation and fibrinolysis were collected before CEA, and the subjects underwent repeated TCD monitoring for MES. A subpopulation (n= 46) underwent MR imaging and repeated neuropsychological examination (preoperative, as well 4 and 100 days after CEA). In MRI, the average apparent diffusion coefficients were higher in the ipsilateral white matter (WM), and altough the interhemispheric difference was abolished by CEA, the levels remained higher than in controls. Symptomatic stenoses were associated with more sluggish perfusion especially in WM, and lower pulsatility of flow in TCD. All patients had poorer cognitive performance than healthy controls. Cognitive functions improved as expected by learning effect despite transient postoperative worsening in a few subjects. Improvement was greater in patients with deepest hypoperfusion, primarily in executive functions. Symptomatic stenoses were associated with higher hematocrit and tissue plasminogen activator antigen levels, as well as higher rate of MES and ulcerated plaques, and better postoperative improvement of vasoreactivity and pulsatility. In light of the findings, carotid stenosis is associated with differences in brain diffusion, perfusion, and cognition. The effect on diffusion in the ipsilateral WM, partially reversible by CEA, may be associated with WM degeneration. Asymptomatic and symptomatic subpopulations differ from each other in terms of hemodynamic adaptation and in their vascular physiological response to removal of stenosis. Although CEA may be associated with a transient cognitive decline, a true improvement of cognitive performance by CEA is possible in patients with the most pronounced perfusion deficits. Mediators of fibrinolysis and unfavourable hemorheology may contribute to the development of a symptomatic disease in patients with a high-grade stenosis.

Kaulavaltimoiden ateroskleroottinen ahtautuminen on tärkeä…

Subjects/Keywords: neurologia; neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Soinne, L. (2009). Carotid Stenosis, Endarterectomy, and the Brain : Brain microcirculation, diffusion, and cognitive function before and after carotid endarterectomy in patients with a high-grade carotid stenosis. (Doctoral Dissertation). University of Helsinki. Retrieved from http://hdl.handle.net/10138/22861

Chicago Manual of Style (16^th Edition):

Soinne, Lauri. “Carotid Stenosis, Endarterectomy, and the Brain : Brain microcirculation, diffusion, and cognitive function before and after carotid endarterectomy in patients with a high-grade carotid stenosis.” 2009. Doctoral Dissertation, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/22861.

MLA Handbook (7^th Edition):

Soinne, Lauri. “Carotid Stenosis, Endarterectomy, and the Brain : Brain microcirculation, diffusion, and cognitive function before and after carotid endarterectomy in patients with a high-grade carotid stenosis.” 2009. Web. 24 Jan 2021.

Vancouver:

Soinne L. Carotid Stenosis, Endarterectomy, and the Brain : Brain microcirculation, diffusion, and cognitive function before and after carotid endarterectomy in patients with a high-grade carotid stenosis. [Internet] [Doctoral dissertation]. University of Helsinki; 2009. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/22861.

Council of Science Editors:

Soinne L. Carotid Stenosis, Endarterectomy, and the Brain : Brain microcirculation, diffusion, and cognitive function before and after carotid endarterectomy in patients with a high-grade carotid stenosis. [Doctoral Dissertation]. University of Helsinki; 2009. Available from: http://hdl.handle.net/10138/22861

University of Helsinki

4. Heikinheimo-Connell, Terttu. Infections, Strokes, and Brain : What are the outcomes?.

Degree: Institute of Clinical Medicine, Department of neurology; Department of infections, Helsinki University Hospital. College of Medicine, Blantyre, Malawi, 2015, University of Helsinki

URL: http://hdl.handle.net/10138/157919

► Background: Stroke is the second most common cause of death. It is also the leading cause of disability worldwide. Low-income countries, where infectious diseases play… (more)

▼ Background: Stroke is the second most common cause of death. It is also the leading cause of disability worldwide. Low-income countries, where infectious diseases play a major role, carry the biggest burden of growing numbers of stroke. Infections can trigger an acute stroke. Malawi is situated in Sub-Saharan Africa, where prevalence of chronic diseases like high blood pressure, diabetes mellitus, and stroke are increasing. The HIV-prevalence among young adults is 12%. HIV may cause milder neurocognitive impairments, which are called HIV-associated neurocognitive disorders (HAND). Methods: The Helsinki Young Stroke Registry (HYSR) includes over 1000 patients aged 15-49 years with acute ischemic stroke. We investigated how high leukocyte count and infections affect recovery after stroke. In Malawi, we defined the stroke characteristics, impact of HIV, and one-year outcome. A selected subset of patients were interviewed about their quality of life (QOL). A group of Finnish men were investigated to determine whether HIV has caused neurological or neurocognitive impairment when with best available treatment for even 30 years. Results: In Helsinki (781 patients) high leukocyte count weakened 3-month outcome, however, not the long-term outcome (8.1±4.2 years). In the other study (681patients) 10% had preceding infection (PI), most commonly upper respiratory tract infection, and 15% had post stroke infection (PSI), most commonly pneumonia. All the infections worsened 3-month outcome. PSI was associated with long-term (7.8±4.0 years) higher risk of all-cause death. In Malawi (147 patients) HIV-infected patients (34%) suffered more often from ischemic stroke than HIV-negative patients. They were younger and had less often conventional risk factors for stroke. More than half of all patients had a poor outcome at 1-year, and the mortality rate was 45%. This was related to stroke severity and female gender but not to presence of HIV. We interviewed 25 patients. Good functional outcome was positively associated with better QOL on the domains of self-care and ability for communication. Females scored worse on the domains of fatigue and cognition. Older age was associated with worse QOL on the domain of self care. HIV did not affect the QOL. We evaluated 17 Finnish HIV-patients. A third had signs of polyneuropathy, half suffered from fatigue, and mild depression was common. Magnet resonance image (MRI) showed signs of lacunar ischemic stroke in three patients. Conclusions: The high leukocyte count in HYSR patients was associated with vascular disease and stroke severity. The high leukocyte count, PI and PSI were associated with poor short-term outcomes. PSIs were also associated with higher long-term mortality. In Malawi, severe stroke and gender were associated with unfavorable outcome. HIV-infection is common especially among young stroke patients, but not related to unfavorable outcome. QOL was associated with age, gender, and functional recovery. Despite HIV, the surviving Finnish patients had no describing features…

Subjects/Keywords: neurologia; neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Heikinheimo-Connell, T. (2015). Infections, Strokes, and Brain : What are the outcomes?. (Doctoral Dissertation). University of Helsinki. Retrieved from http://hdl.handle.net/10138/157919

Chicago Manual of Style (16^th Edition):

Heikinheimo-Connell, Terttu. “Infections, Strokes, and Brain : What are the outcomes?.” 2015. Doctoral Dissertation, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/157919.

MLA Handbook (7^th Edition):

Heikinheimo-Connell, Terttu. “Infections, Strokes, and Brain : What are the outcomes?.” 2015. Web. 24 Jan 2021.

Vancouver:

Heikinheimo-Connell T. Infections, Strokes, and Brain : What are the outcomes?. [Internet] [Doctoral dissertation]. University of Helsinki; 2015. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/157919.

Council of Science Editors:

Heikinheimo-Connell T. Infections, Strokes, and Brain : What are the outcomes?. [Doctoral Dissertation]. University of Helsinki; 2015. Available from: http://hdl.handle.net/10138/157919

Universidade do Rio Grande do Sul

5. Goi, Pedro Domingues. Evidências clinicas para o modelo de neuroprogressão no transtorno bipolar.

Degree: 2014, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/106844

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O Transtorno Bipolar (TB) é uma patologia prevalente, grave, crônica, e que apresenta um curso longitudinal muito pior que se imaginava décadas atrás. Além da… (more)

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O Transtorno Bipolar (TB) é uma patologia prevalente, grave, crônica, e que apresenta um curso longitudinal muito pior que se imaginava décadas atrás. Além da alternância entre períodos de depressão, mania e eutimia, a recorrência e a progressão do TB conferem gravidade e frequência crescentes aos episódios. A neuroprogressão foi um termo cunhado para definir a aceleração do processo de doença e seus fatores subjacentes, como alterações de biomarcadores periféricos, funções cognitivas, neuroimagem e funcionalidade, que emergem em graus variáveis dependendo da fase de evolução. Todas estas evidências justificaram a classificação do TB em estágios clínicos teóricos distintos, que ainda carecem de validação empírica. Um dos mais recentes deles propõe 1 estágio latente e 4 estágios clínicos distintos (Kapczinski et al, 2009) (1). O presente trabalho avaliou, portanto, as diferentes estratégias farmacológicas para a manutenção da eutimia em uma amostra de pacientes com TB em diferentes estágios (artigo 1), e a associação do atraso no tratamento do primeiro episódio com fatores de pior prognóstico e com os estágios do TB (artigo 2). Em conjunto, os resultados mostraram que a abordagem farmacológica instituída pelo psiquiatra clínico, necessária para manter o paciente em eutimia, é diferente conforme a classificação em estágios. O número de fármacos prescrito também está relacionado ao declínio da funcionalidade. Além disso, o atraso no início do tratamento do TB é diretamente proporcional ao estágio de evolução da doença, e está relacionado a fatores de pior prognóstico, como o número de episódios. Os achados fornecem evidência para modificar certas intervenções no TB: a primeira, que diretrizes de tratamento poderiam considerar os estágios, visando um tratamento mais personalizado para guiar a eficácia do tratamento; e por último, que o esforço em diagnosticar e tratar o TB com precisão e rapidez pode ser uma das medidas para frear a neuroprogressão.

Bipolar Disorder (TB) is a severe, prevalent, and chronic disease, that exhibits worse longitudinal course than previously thought. Beyond the switching phases of depression, mania and euthymia, recurrence and progression of TB increases severity and frequency of episodes. The neuroprogression was a term created to define the acceleration of the disease and its underlying factors, such as changes in peripheral biomarkers, in cognitive performance, in neuroimaging and functioning, that emerge in different degrees depending on the stage of evolution. All those evidences justify the classification of TB in different clinical stages, which still lack empirical validation. One of most recently proposed staging model describes 1 latent stage and 4 clinical stages (Kapczinski et al, 2009) (1). The present study therefore evaluated the different pharmacological strategies for the maintenance of euthymia in a sample of TB patients at different stages (Article 1), and the association of first-episode tretament delay with poor prognosis and BD stages (Article 2). Together, the…

Advisors/Committee Members: Gama, Clarissa Severino.

Subjects/Keywords: Transtorno bipolar; Neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Goi, P. D. (2014). Evidências clinicas para o modelo de neuroprogressão no transtorno bipolar. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/106844

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Goi, Pedro Domingues. “Evidências clinicas para o modelo de neuroprogressão no transtorno bipolar.” 2014. Thesis, Universidade do Rio Grande do Sul. Accessed January 24, 2021. http://hdl.handle.net/10183/106844.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Goi, Pedro Domingues. “Evidências clinicas para o modelo de neuroprogressão no transtorno bipolar.” 2014. Web. 24 Jan 2021.

Vancouver:

Goi PD. Evidências clinicas para o modelo de neuroprogressão no transtorno bipolar. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2014. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10183/106844.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Goi PD. Evidências clinicas para o modelo de neuroprogressão no transtorno bipolar. [Thesis]. Universidade do Rio Grande do Sul; 2014. Available from: http://hdl.handle.net/10183/106844

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Helsinki

6. Saastamoinen, Aleksi. Suomalainen perinnöllinen gelsoliiniamyloidoosi – taudin ilmenemisen ja kehittymisen erot miesten ja naisten välillä.

Degree: Institute of Clinical Medicine; Helsingfors universitet, Medicinska fakulteten, Institutionen för klinisk medicin, 2014, University of Helsinki

URL: http://hdl.handle.net/10138/136323

► Meretojan tauti eli suomalainen perinnöllinen gelsoliiniamyloidoosi on yksi yleisimmistä suomalaiseen tautiperintöön kuuluvista perinnöllisistä sairauksista. Tutkimuksen tarkoituksena on selvittää taudin ilmenemisen ja kehittymisen eroavaisuuksia miesten ja… (more)

Subjects/Keywords: Neurology; Neurologia; Neurologi

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Saastamoinen, A. (2014). Suomalainen perinnöllinen gelsoliiniamyloidoosi – taudin ilmenemisen ja kehittymisen erot miesten ja naisten välillä. (Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/136323

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Saastamoinen, Aleksi. “Suomalainen perinnöllinen gelsoliiniamyloidoosi – taudin ilmenemisen ja kehittymisen erot miesten ja naisten välillä.” 2014. Thesis, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/136323.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Saastamoinen, Aleksi. “Suomalainen perinnöllinen gelsoliiniamyloidoosi – taudin ilmenemisen ja kehittymisen erot miesten ja naisten välillä.” 2014. Web. 24 Jan 2021.

Vancouver:

Saastamoinen A. Suomalainen perinnöllinen gelsoliiniamyloidoosi – taudin ilmenemisen ja kehittymisen erot miesten ja naisten välillä. [Internet] [Thesis]. University of Helsinki; 2014. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/136323.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Saastamoinen A. Suomalainen perinnöllinen gelsoliiniamyloidoosi – taudin ilmenemisen ja kehittymisen erot miesten ja naisten välillä. [Thesis]. University of Helsinki; 2014. Available from: http://hdl.handle.net/10138/136323

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Helsinki

7. Järvinen, Anna. Kromosomin 14q12-q23 tarkempi analysointi suomalaisessa migreeni-epilepsiasuvussa.

Degree: Institute of Clinical Medicine; Helsingfors universitet, Medicinska fakulteten, Institutionen för klinisk medicin, 2015, University of Helsinki

URL: http://hdl.handle.net/10138/154097

► Tutkimuksen tavoitteena oli löytää migreenille ja epilepsialle altistavia geneettisiä variantteja eksomisekvensoinnin avulla kromosomista 14q12-q23. Aineistona toimi kumpaakin sairautta ilmentävä suomalainen suku. Migreenidiagnoosit asetettiin kyselylomakkeen pohjalta,… (more)

Subjects/Keywords: Neurology; Neurologia; Neurologi

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APA (6^th Edition):

Järvinen, A. (2015). Kromosomin 14q12-q23 tarkempi analysointi suomalaisessa migreeni-epilepsiasuvussa. (Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/154097

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Järvinen, Anna. “Kromosomin 14q12-q23 tarkempi analysointi suomalaisessa migreeni-epilepsiasuvussa.” 2015. Thesis, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/154097.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Järvinen, Anna. “Kromosomin 14q12-q23 tarkempi analysointi suomalaisessa migreeni-epilepsiasuvussa.” 2015. Web. 24 Jan 2021.

Vancouver:

Järvinen A. Kromosomin 14q12-q23 tarkempi analysointi suomalaisessa migreeni-epilepsiasuvussa. [Internet] [Thesis]. University of Helsinki; 2015. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/154097.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Järvinen A. Kromosomin 14q12-q23 tarkempi analysointi suomalaisessa migreeni-epilepsiasuvussa. [Thesis]. University of Helsinki; 2015. Available from: http://hdl.handle.net/10138/154097

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Helsinki

8. Suihko, Veera. Levottomien jalkojen oireyhtymä. Oireet, diagnostiikka ja hoidon pääperiaatteet sekä oireita kartoittava tutkimus suomalaisessa suvussa.

Degree: Institute of Clinical Medicine; Helsingfors universitet, Medicinska fakulteten, Institutionen för klinisk medicin, 2013, University of Helsinki

URL: http://hdl.handle.net/10138/155961

► Levottomien jalkojen oireyhtymä (RLS) on merkittävästi potilaiden elämänlaatuun vaikuttava neurologinen sairaus, jonka esiintyvyys länsimaissa on 4-29 %. Oireyhtymä on vahvasti periytyvä. Tutkielman tarkoituksena oli kartoittaa… (more)

Subjects/Keywords: Neurology; Neurologia; Neurologi

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APA (6^th Edition):

Suihko, V. (2013). Levottomien jalkojen oireyhtymä. Oireet, diagnostiikka ja hoidon pääperiaatteet sekä oireita kartoittava tutkimus suomalaisessa suvussa. (Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/155961

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Suihko, Veera. “Levottomien jalkojen oireyhtymä. Oireet, diagnostiikka ja hoidon pääperiaatteet sekä oireita kartoittava tutkimus suomalaisessa suvussa.” 2013. Thesis, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/155961.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Suihko, Veera. “Levottomien jalkojen oireyhtymä. Oireet, diagnostiikka ja hoidon pääperiaatteet sekä oireita kartoittava tutkimus suomalaisessa suvussa.” 2013. Web. 24 Jan 2021.

Vancouver:

Suihko V. Levottomien jalkojen oireyhtymä. Oireet, diagnostiikka ja hoidon pääperiaatteet sekä oireita kartoittava tutkimus suomalaisessa suvussa. [Internet] [Thesis]. University of Helsinki; 2013. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/155961.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Suihko V. Levottomien jalkojen oireyhtymä. Oireet, diagnostiikka ja hoidon pääperiaatteet sekä oireita kartoittava tutkimus suomalaisessa suvussa. [Thesis]. University of Helsinki; 2013. Available from: http://hdl.handle.net/10138/155961

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Helsinki

9. Koskela, Ilkka. Basilar Artery Occlusion in Young Adults.

Degree: Institute of Biomedicine; Helsingfors universitet, Medicinska fakulteten, Biomedicinska institutionen, 2014, University of Helsinki

URL: http://hdl.handle.net/10138/155966

► Basilar artery occlusion (BAO) is one of the most severe neurological diseases associated with high mortality and morbidity. According to previous studies, aetiology, risk factors… (more)

Subjects/Keywords: Neurology; Neurologia; Neurologi

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APA (6^th Edition):

Koskela, I. (2014). Basilar Artery Occlusion in Young Adults. (Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/155966

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Koskela, Ilkka. “Basilar Artery Occlusion in Young Adults.” 2014. Thesis, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/155966.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Koskela, Ilkka. “Basilar Artery Occlusion in Young Adults.” 2014. Web. 24 Jan 2021.

Vancouver:

Koskela I. Basilar Artery Occlusion in Young Adults. [Internet] [Thesis]. University of Helsinki; 2014. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/155966.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Koskela I. Basilar Artery Occlusion in Young Adults. [Thesis]. University of Helsinki; 2014. Available from: http://hdl.handle.net/10138/155966

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Helsinki

10. Turunen, Saana. Sarjoittainen päänsärky suomalaisissa päänsärkysuvuissa.

Degree: Institute of Clinical Medicine; Helsingfors universitet, Medicinska fakulteten, Institutionen för klinisk medicin, 2014, University of Helsinki

URL: http://hdl.handle.net/10138/155972

► Tutkielmassa pyrittiin selvittämään sarjoittaisesta päänsärystä kärsivien suomalaispotilaiden päänsäryn kliinistä kuvaa sekä heidän ja heidän sukulaistensa migreenitaipumusta. Pyrittiin myös valitsemaan kiinnostavat suvut molekyyligeneettiseen tutkimukseen, jossa selvitetään… (more)

Subjects/Keywords: Neurology; Neurologia; Neurologi

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APA (6^th Edition):

Turunen, S. (2014). Sarjoittainen päänsärky suomalaisissa päänsärkysuvuissa. (Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/155972

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Turunen, Saana. “Sarjoittainen päänsärky suomalaisissa päänsärkysuvuissa.” 2014. Thesis, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/155972.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Turunen, Saana. “Sarjoittainen päänsärky suomalaisissa päänsärkysuvuissa.” 2014. Web. 24 Jan 2021.

Vancouver:

Turunen S. Sarjoittainen päänsärky suomalaisissa päänsärkysuvuissa. [Internet] [Thesis]. University of Helsinki; 2014. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/155972.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Turunen S. Sarjoittainen päänsärky suomalaisissa päänsärkysuvuissa. [Thesis]. University of Helsinki; 2014. Available from: http://hdl.handle.net/10138/155972

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Cagliari

11. Muroni, Antonella. Metabolomica: un nuovo approccio per lo studio della predittività di farmacoresistenza e di complicanze cardiovascolari in epilessia.

Degree: 2012, Università di Cagliari

URL: http://veprints.unica.it/748/

► About 30% of epileptic subjects is “drug resistant” (DR) to mono and multiple treatments. The risk of sudden unexpected death (SUDEP) is more than 20… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Muroni, A. (2012). Metabolomica: un nuovo approccio per lo studio della predittività di farmacoresistenza e di complicanze cardiovascolari in epilessia. (Thesis). Università di Cagliari. Retrieved from http://veprints.unica.it/748/

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Muroni, Antonella. “Metabolomica: un nuovo approccio per lo studio della predittività di farmacoresistenza e di complicanze cardiovascolari in epilessia.” 2012. Thesis, Università di Cagliari. Accessed January 24, 2021. http://veprints.unica.it/748/.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Muroni, Antonella. “Metabolomica: un nuovo approccio per lo studio della predittività di farmacoresistenza e di complicanze cardiovascolari in epilessia.” 2012. Web. 24 Jan 2021.

Vancouver:

Muroni A. Metabolomica: un nuovo approccio per lo studio della predittività di farmacoresistenza e di complicanze cardiovascolari in epilessia. [Internet] [Thesis]. Università di Cagliari; 2012. [cited 2021 Jan 24]. Available from: http://veprints.unica.it/748/.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Muroni A. Metabolomica: un nuovo approccio per lo studio della predittività di farmacoresistenza e di complicanze cardiovascolari in epilessia. [Thesis]. Università di Cagliari; 2012. Available from: http://veprints.unica.it/748/

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Helsinki

12. Pöyhönen, Rosanna. Identification of disease causing mutations in early-onset neuropathies by exome sequencing.

Degree: Medicinska fakulteten, 2013, University of Helsinki

URL: http://hdl.handle.net/10138/41115

► Charcot-Marie-Tooth (CMT) neuropathy is one of the most common forms of inherited peripheral neuropathies with the prevalence of one in 2500 individuals. CMT is phenotypically… (more)

▼ Charcot-Marie-Tooth (CMT) neuropathy is one of the most common forms of inherited peripheral neuropathies with the prevalence of one in 2500 individuals. CMT is phenotypically and genetically a very heterogeneous disease. It can be inherited as an autosomal recessive, dominant or X-linked trait. CMT is characterized by distal muscle weakness, atrophy and deformity of the feet as well as clumsiness of gait. The onset of CMT varies and also the symptoms of the disease can vary even among the members of a single family. So far more than 40 genes have been identified for CMT and the list is estimated to grow by 30-50 genes. Whole exome sequencing (WES) is a next generation sequencing technique, which targets the protein coding area of the genome. Through WES analysis it is possible to search for disease causing mutations with all kinds of inheritance patterns. Patients suffering from CMT are good candidates for WES analysis because of the genetic heterogeneity of their disease. WES can be used for diagnosing Mendelian disorders with atypical symptoms as well as diseases, which are difficult to confirm using clinical criteria alone and which require costly evaluation, e.g. CMT. In this master study new disease causing mutations for early-onset neuropathies are identified by whole exome sequencing. The aims of this study include using WES for the molecular diagnosis of four patients suffering from early-onset axonal neuropathies, the functional analysis of possible causative variants and improving and developing the process of analyzing variants from whole exome sequencing data, especially the analyzing steps of insertion and deletion variants. Finding causative variants among the insertion and deletion variants has previously been often left out from the WES analysis because of the lack of systematic analysis technique. As a result of the WES data analysis a new candidate disease gene, tripartite motif containing 2 (TRIM2) was identified. A missense mutation c.761T>A (p.E254V) and a deletion c.1779delA (p.K594Rfs7X) were found in patient 2, who suffers from severe CMT type 2. The carrier frequency was analysed to see whether the variants are present in the general population or not. The functional analysis of TRIM2 was started by preparing constructs carrying the missense mutation and the deletion and by setting up conditions for western blotting.

Subjects/Keywords: Neurology; Neurologia; Neurologi

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Pöyhönen, R. (2013). Identification of disease causing mutations in early-onset neuropathies by exome sequencing. (Masters Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/41115

Chicago Manual of Style (16^th Edition):

Pöyhönen, Rosanna. “Identification of disease causing mutations in early-onset neuropathies by exome sequencing.” 2013. Masters Thesis, University of Helsinki. Accessed January 24, 2021. http://hdl.handle.net/10138/41115.

MLA Handbook (7^th Edition):

Pöyhönen, Rosanna. “Identification of disease causing mutations in early-onset neuropathies by exome sequencing.” 2013. Web. 24 Jan 2021.

Vancouver:

Pöyhönen R. Identification of disease causing mutations in early-onset neuropathies by exome sequencing. [Internet] [Masters thesis]. University of Helsinki; 2013. [cited 2021 Jan 24]. Available from: http://hdl.handle.net/10138/41115.

Council of Science Editors:

Pöyhönen R. Identification of disease causing mutations in early-onset neuropathies by exome sequencing. [Masters Thesis]. University of Helsinki; 2013. Available from: http://hdl.handle.net/10138/41115

13. Kuusi, Sanni. Opas epilepsiapotilaan hoidosta neurologisen kuntoutusosaston hoitajille.

Degree: 2013, Satakunnan ammattikorkeakoulu

URL: http://www.theseus.fi/handle/10024/57550

►

Tämän projektin tarkoituksena oli tuottaa Hatanpään puistosairaalan neurologiselle kuntoutusosastolle V2N opas epilepsiapotilaan hoidosta. Tavoitteena oli lisätä hoitajien tietoutta epilepsiasta ja sen lääkehoidosta, ja tällä tavoin… (more)

▼

Tämän projektin tarkoituksena oli tuottaa Hatanpään puistosairaalan neurologiselle kuntoutusosastolle V2N opas epilepsiapotilaan hoidosta. Tavoitteena oli lisätä hoitajien tietoutta epilepsiasta ja sen lääkehoidosta, ja tällä tavoin parantaa epilepsiaa sairastavien potilaiden saamaa hoitoa kyseisellä osastolla. Opas toimitettiin osastolle sähköisessä muodossa, jotta sitä voi jatkossa päivittää. Normaali aivojen toiminta perustuu hermosolujen välisiin sähköimpulsseihin. Epilepsia tarkoittaa aivoissa tapahtuvaa epänormaaleja sähköisiä purkauksia, jotka aiheuttavat paljon erilaisia oireita. Se on paljon luultua yleisempää, ja Suomessa sitä sairastaa noin 56 000 ihmistä. Projektin teoreettinen osuus koottiin kirjallisuudesta ja opas on koottu näiden tietojen perusteella. Oppaan sisällöstä keskusteltiin osastonhoitajan, neurologin ja osaston hoitajien kanssa, ja näiden keskustelujen avulla päätettiin mistä sisältö koostuisi. Oppaassa kerrotaan mitä epilepsia tarkoittaa, mitkä ovat sen syyt ja millaisia eri kohtauksia on olemassa, mitkä ovat keskeisiä oireita, minkälainen on epilepsialääkitys, ja kuinka tulisi toimia potilaan saadessa epilepsiakohtaus osastolla. Tämä opinnäytetyö toteutettiin työelämälähtöisenä projektina, jonka tuotoksena on 21-sivuinen opas epilepsiapotilan hoidosta hoitajille. Opas tulee henkilökunnan käyttöön keväällä 2013. Jatkoprojektina aiheesta voisi tehdä koulutuspäivän tai ohjausvideon epilepsian hoidosta osaston hoitajille tai potilaille.

The purpose of this thesis was to produce a guide to caring patients with epilepsy for nursing staff in neurological rehabilitation unit V2N in Hatanpää hospital. The objective was to increase the knowledge of the nursing staff about epilepsy and the medi-cation used for it to improve the care received by patients with epilepsy. The guide was brought to the unit in electronic form so it could be easily updated. Normal human brain function is based on electrical impulses between nerve cells. Epilepsy means abnormal electrical outbursts in brain that cause plethora of different kinds of symptoms. It is much more common than previously assumed, and 56 000 individuals in Finland are suffering from it. The theoretical part of this project was assembled from the literature and the guide was then based on that information. The contents of this guide were the results of deliberations with the charge nurse, neurologist and the nursing staff in the ward. The guide will open the facts about what the epilepsy is about, what are the reasons lead-ing to it, what kind of different seizures there is, what are the focal symptoms, what is the medication used to it and how to act should a patient have an epileptic seizure in the ward. This thesis was executed as a working life oriented project. The product of the pro-ject is 21 pages long guide to caring patients with epilepsy for nurses. The guide will be in use from spring 2013 onwards. Continuation project could be to produce and arrange an instruction day or an in-struction video about this…

Advisors/Committee Members: Satakunnan ammattikorkeakoulu.

Subjects/Keywords: epilepsia; neurologia; kuntoutus

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Kuusi, S. (2013). Opas epilepsiapotilaan hoidosta neurologisen kuntoutusosaston hoitajille. (Thesis). Satakunnan ammattikorkeakoulu. Retrieved from http://www.theseus.fi/handle/10024/57550

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Kuusi, Sanni. “Opas epilepsiapotilaan hoidosta neurologisen kuntoutusosaston hoitajille.” 2013. Thesis, Satakunnan ammattikorkeakoulu. Accessed January 24, 2021. http://www.theseus.fi/handle/10024/57550.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Kuusi, Sanni. “Opas epilepsiapotilaan hoidosta neurologisen kuntoutusosaston hoitajille.” 2013. Web. 24 Jan 2021.

Vancouver:

Kuusi S. Opas epilepsiapotilaan hoidosta neurologisen kuntoutusosaston hoitajille. [Internet] [Thesis]. Satakunnan ammattikorkeakoulu; 2013. [cited 2021 Jan 24]. Available from: http://www.theseus.fi/handle/10024/57550.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Kuusi S. Opas epilepsiapotilaan hoidosta neurologisen kuntoutusosaston hoitajille. [Thesis]. Satakunnan ammattikorkeakoulu; 2013. Available from: http://www.theseus.fi/handle/10024/57550

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

14. Sambati, Luisa. Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study.

Degree: 2015, Università di Bologna

URL: http://amsdottorato.unibo.it/7038/7/Luisa_Sambati_Tesi.pdf ; Sambati, Luisa (2015) Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7038.

► Background: cognitive impairment is one of the non motor features widely descripted in parkinsonian syndrome, it has been related to the motor characteristics of the… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Sambati, L. (2015). Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/7038/7/Luisa_Sambati_Tesi.pdf ; Sambati, Luisa (2015) Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7038.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Sambati, Luisa. “Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study.” 2015. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/7038/7/Luisa_Sambati_Tesi.pdf ; Sambati, Luisa (2015) Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7038..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Sambati, Luisa. “Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study.” 2015. Web. 24 Jan 2021.

Vancouver:

Sambati L. Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study. [Internet] [Thesis]. Università di Bologna; 2015. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/7038/7/Luisa_Sambati_Tesi.pdf ; Sambati, Luisa (2015) Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7038..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Sambati L. Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study. [Thesis]. Università di Bologna; 2015. Available from: http://amsdottorato.unibo.it/7038/7/Luisa_Sambati_Tesi.pdf ; Sambati, Luisa (2015) Cognitive and behavioural assessment of parkinsonian syndromes at onset: a longitudinal study, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7038.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

15. Puligheddu, Monica Maria Francesca. Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy (NFLE). .

Degree: 2015, Università di Bologna

URL: http://amsdottorato.unibo.it/7057/1/M_Puligheddu_TESI_Dottorato.pdf ; Puligheddu, Monica Maria Francesca (2015) Razionale sull'impiego del fenofibrato come terapia aggiuntiva nell'epilessia frontale notturna (NFLE) farmacoresistente, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7057.

► Nocturnal Frontal Lobe Epilepsy (NFLE) is characterized by onset during infancy or childhood with persistence in adulthood, family history of similar nocturnal episodes simulating non-REM… (more)

▼ Nocturnal Frontal Lobe Epilepsy (NFLE) is characterized by onset during infancy or childhood with persistence in adulthood, family history of similar nocturnal episodes simulating non-REM parasomnias (sleep terrors or sleepwalking), general absence of morphological substrates, often by normal interictal electroencephalographical recordings (EEGs) during wakefulness. A family history of epilepsy may be present with Mendelian autosomal dominant inheritance has been described in some families. Recent studies indicate the involvement of neuronal nicotinic acetylcholine receptors (nAChRs) in the molecular mechanisms of NFLE. Mutations in the genes encoding for the α4 (CHRNA4) and ß2 (CHRNB2) subunits of the nAChR induce changes in the biophysical properties of nAChR, resulting generally in a “gain of function”. Preclinical studies report that activation of a nuclear receptor called type peroxisome proliferator-activated receptor (PPAR-α) by endogenous molecules or by medications (e.g. fenofibrate) reduces the activity of the nAChR and, therefore, may decrease the frequency of seizures. Thus, we hypothesize that negative modulation of nAChRs might represent a therapeutic strategy to be explored for pharmacological treatment of this form of epilepsy, which only partially responds to conventional antiepileptic drugs. In fact, carbamazepine, the current medication for NFLE, abolishes the seizures only in one third of the patients. The aim of the project is: 1)_to verify the clinical efficacy of adjunctive therapy with fenofibrate in pharmacoresistant NFLE and ADNFLE patients; focousing on the analysis of the polysomnographic action of the PPAR- agonist (fenofibrate). 2)_to demonstrate the subtended mechanism of efficacy by means of electrophysiological and behavioral experiments in an animal model of the disease: particularly, transgenic mice carrying the mutation in the nAChR 4 subunit (Chrna4S252F) homologous to that found in the humans. Given that a PPAR-α agonist, FENOFIBRATE, already clinically utilized for lipid metabolism disorders, provides a promising therapeutic avenue in the treatment of NFLE\ADNFLE.

Subjects/Keywords: MED/26 Neurologia

11 more images…

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APA (6^th Edition):

Puligheddu, M. M. F. (2015). Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy (NFLE). . (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/7057/1/M_Puligheddu_TESI_Dottorato.pdf ; Puligheddu, Monica Maria Francesca (2015) Razionale sull'impiego del fenofibrato come terapia aggiuntiva nell'epilessia frontale notturna (NFLE) farmacoresistente, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7057.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Puligheddu, Monica Maria Francesca. “Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy (NFLE). .” 2015. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/7057/1/M_Puligheddu_TESI_Dottorato.pdf ; Puligheddu, Monica Maria Francesca (2015) Razionale sull'impiego del fenofibrato come terapia aggiuntiva nell'epilessia frontale notturna (NFLE) farmacoresistente, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7057..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Puligheddu, Monica Maria Francesca. “Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy (NFLE). .” 2015. Web. 24 Jan 2021.

Vancouver:

Puligheddu MMF. Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy (NFLE). . [Internet] [Thesis]. Università di Bologna; 2015. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/7057/1/M_Puligheddu_TESI_Dottorato.pdf ; Puligheddu, Monica Maria Francesca (2015) Razionale sull'impiego del fenofibrato come terapia aggiuntiva nell'epilessia frontale notturna (NFLE) farmacoresistente, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7057..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Puligheddu MMF. Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy (NFLE). . [Thesis]. Università di Bologna; 2015. Available from: http://amsdottorato.unibo.it/7057/1/M_Puligheddu_TESI_Dottorato.pdf ; Puligheddu, Monica Maria Francesca (2015) Razionale sull'impiego del fenofibrato come terapia aggiuntiva nell'epilessia frontale notturna (NFLE) farmacoresistente, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7057.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

16. Mostacci, Barbara. Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health.

Degree: 2015, Università di Bologna

URL: http://amsdottorato.unibo.it/7105/1/mostacci_barbara_tesi.pdf ; Mostacci, Barbara (2015) Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7105.

► Aims of the study: To assess the prevalence of Antiepileptic Drug (AED) exposure in pregnant women with or without epilepsy and the comparative risk of… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Mostacci, B. (2015). Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/7105/1/mostacci_barbara_tesi.pdf ; Mostacci, Barbara (2015) Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7105.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Mostacci, Barbara. “Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health.” 2015. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/7105/1/mostacci_barbara_tesi.pdf ; Mostacci, Barbara (2015) Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7105..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Mostacci, Barbara. “Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health.” 2015. Web. 24 Jan 2021.

Vancouver:

Mostacci B. Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health. [Internet] [Thesis]. Università di Bologna; 2015. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/7105/1/mostacci_barbara_tesi.pdf ; Mostacci, Barbara (2015) Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7105..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Mostacci B. Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health. [Thesis]. Università di Bologna; 2015. Available from: http://amsdottorato.unibo.it/7105/1/mostacci_barbara_tesi.pdf ; Mostacci, Barbara (2015) Antiepileptic drugs and pregnancy. Population based pharmaco-epidemiological study on prescription patterns, pregnancy outcome and foetal health, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7105.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

17. Pittau, Francesca. Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease.

Degree: 2015, Università di Bologna

URL: http://amsdottorato.unibo.it/7131/4/Pittau_Francesca_Tesi.pdf ; Pittau, Francesca (2015) Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7131.

► Aim: To assess if the intake of levodopa in patients with Parkinson’s Disease (PD) changes cerebral connectivity, as revealed by simultaneous recording of hemodynamic (functional… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Pittau, F. (2015). Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/7131/4/Pittau_Francesca_Tesi.pdf ; Pittau, Francesca (2015) Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7131.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Pittau, Francesca. “Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease.” 2015. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/7131/4/Pittau_Francesca_Tesi.pdf ; Pittau, Francesca (2015) Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7131..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Pittau, Francesca. “Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease.” 2015. Web. 24 Jan 2021.

Vancouver:

Pittau F. Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease. [Internet] [Thesis]. Università di Bologna; 2015. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/7131/4/Pittau_Francesca_Tesi.pdf ; Pittau, Francesca (2015) Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7131..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Pittau F. Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease. [Thesis]. Università di Bologna; 2015. Available from: http://amsdottorato.unibo.it/7131/4/Pittau_Francesca_Tesi.pdf ; Pittau, Francesca (2015) Multimodal (EEG-fMRI) functional connectivity study of levodopa effect in Parkinson’s disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 27 Ciclo. DOI 10.6092/unibo/amsdottorato/7131.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

18. Licchetta, Laura. In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES).

Degree: 2017, Università di Bologna

URL: http://amsdottorato.unibo.it/8079/1/tesi%20PhD%20_licchetta.pdf ; Licchetta, Laura (2017) In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES), [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/8079.

► Sleep-related Hypermotor Epilepsy (SHE) is a genetically heterogeneous epilepsy syndrome. Differences in epilepsy phenotype/endophenotype were associated with mutations in specific genes. However, the genes identified… (more)

▼ Sleep-related Hypermotor Epilepsy (SHE) is a genetically heterogeneous epilepsy syndrome. Differences in epilepsy phenotype/endophenotype were associated with mutations in specific genes. However, the genes identified so far cumulatively account for 25% of cases. Moreover, systematic neuropsychological investigations on comprehensive SHE cohorts are lacking. This study provides an accurate clinical, genetic and neuropsychological characterization of a large cohort of patients diagnosed with SHE according to reliable diagnostic criteria. A subgroup underwent a preliminary screening, partly performed by dHPLC to exclude mutations in CHRNA4, CHRNB2, CHRNA2. Using a number of genetic strategies, we identified causative mutations in 10.4% of our cases. The mutation frequencies were 2.3% for KCNT1 (CI: 0.3-8.1%), 5.9% for GATOR1-complex genes (CI: 2.0-13.3%), 3.1% for CHRNA4 (CI: 0.6-8.8%) and 1.7% for SCN1A (CI 0-8.9%). WES analysis allowed the identification of a novel epilepsy gene, NPRL2, coding a component of GATOR1, a negative regulator of mTOR pathway. Altogether, mutations in the GATOR1 complex genes DEPDC5 and NPRL2 account for the majority of our cases (6%). Genotype-phenotype correlations confirmed their association with focal cortical dysplasia, higher rates of drug-resistance, aura and seizures in wakefulness, with relevant implications in diagnostic and treatment strategies. Moreover, we confirm that mutations in KCNT1 are implicated in severe forms with intellectual disability and psychiatric disorders. The unexpected detection of CHRNA4 mutations highlighted the low sensitivity of dHPLC assay. The systematic neuropsychological study showed that neurocognitive deficits are not uncommon in SHE. Mutated patients scored significantly lower at WAIS, supporting a crucial role of genetics in cognitive deficit by different biological mechanisms and molecular pathways. About 47% of patients of normal intelligence showed some degree of cognitive dysfunction. The profile of neuropsychological impairment was characterized by significant worse scores in verbal IQ, deficits in memory and in selected executive functions, with preserved shifting abilities and cognitive flexibility.

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Licchetta, L. (2017). In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES). (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/8079/1/tesi%20PhD%20_licchetta.pdf ; Licchetta, Laura (2017) In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES), [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/8079.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Licchetta, Laura. “In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES).” 2017. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/8079/1/tesi%20PhD%20_licchetta.pdf ; Licchetta, Laura (2017) In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES), [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/8079..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Licchetta, Laura. “In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES).” 2017. Web. 24 Jan 2021.

Vancouver:

Licchetta L. In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES). [Internet] [Thesis]. Università di Bologna; 2017. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/8079/1/tesi%20PhD%20_licchetta.pdf ; Licchetta, Laura (2017) In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES), [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/8079..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Licchetta L. In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES). [Thesis]. Università di Bologna; 2017. Available from: http://amsdottorato.unibo.it/8079/1/tesi%20PhD%20_licchetta.pdf ; Licchetta, Laura (2017) In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES), [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/8079.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

19. Caporali, Leonardo. The role of mitochondrial genome in inherited optic neuropathies.

Degree: 2018, Università di Bologna

URL: http://amsdottorato.unibo.it/8271/1/CAPORALI%20LEONARDO%20PhD.pdf ; Caporali, Leonardo (2018) The role of mitochondrial genome in inherited optic neuropathies, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8271.

► Leber's hereditary optic neuropathy (LHON) and Dominant Optic Atrophy (DOA) are common cause of vision loss. LHON is due in 90% of cases to three… (more)

▼ Leber's hereditary optic neuropathy (LHON) and Dominant Optic Atrophy (DOA) are common cause of vision loss. LHON is due in 90% of cases to three common point mutations in mitochondrial genome (mtDNA), affecting complex I subunit genes. In 10% LHON is associated to a rare mtDNA mutation and, for the first time, with peculiar combinations of individually non-pathogenic missense mtDNA variants. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: the LHON phenotype is strictly inherited along maternal line; the combinations of variants are unique; the mitochondrial defect is co-transferred into the cybrid-cell model; all but one of these variants clustered along the same predicted fourth E-channel deputed to proton translocation. Hence, the definition of the pathogenic role of a specific mtDNA mutation becomes blurrier than ever and, even in the absence of a clearly established LHON primary mutation, unprecedented combinations of missense mtDNA variants, individually known as polymorphisms, may lead to reduced OXPHOS efficiency sufficient to trigger LHON. In this complex scenario, mtDNA variability itself may play a modifying role in LHON and DOA. The mtDNA was completely sequenced in largest European cohort of 119 independent probands, carrying the m.14484T>C/MT-ND6 LHON mutation. Besides the occasional finding of double mutants and multiple founder events, we confirm the association with haplogroup J root, but not with its more recent sub-clades. The phylogenetic analysis suggests a possible double role of haplogroup J: predisposing factor to mutagenesis or preserving the mutation during evolution. On the clinical ground, the penetrance of m.14484T>C/MT-ND6 mutation increases on haplogroup J, especially in females. In DOA cohorts, the relationship with mtDNA genetic variation is complex: no specific haplogroups resulted associated with DOA, neither clearly modified its clinical outcome. We only documented a minor effect of mtDNA, and nDNA played a definitely stronger role as modifier.

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Caporali, L. (2018). The role of mitochondrial genome in inherited optic neuropathies. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/8271/1/CAPORALI%20LEONARDO%20PhD.pdf ; Caporali, Leonardo (2018) The role of mitochondrial genome in inherited optic neuropathies, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8271.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Caporali, Leonardo. “The role of mitochondrial genome in inherited optic neuropathies.” 2018. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/8271/1/CAPORALI%20LEONARDO%20PhD.pdf ; Caporali, Leonardo (2018) The role of mitochondrial genome in inherited optic neuropathies, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8271..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Caporali, Leonardo. “The role of mitochondrial genome in inherited optic neuropathies.” 2018. Web. 24 Jan 2021.

Vancouver:

Caporali L. The role of mitochondrial genome in inherited optic neuropathies. [Internet] [Thesis]. Università di Bologna; 2018. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/8271/1/CAPORALI%20LEONARDO%20PhD.pdf ; Caporali, Leonardo (2018) The role of mitochondrial genome in inherited optic neuropathies, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8271..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Caporali L. The role of mitochondrial genome in inherited optic neuropathies. [Thesis]. Università di Bologna; 2018. Available from: http://amsdottorato.unibo.it/8271/1/CAPORALI%20LEONARDO%20PhD.pdf ; Caporali, Leonardo (2018) The role of mitochondrial genome in inherited optic neuropathies, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8271.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

20. Terlizzi, Rossana. Epigenetic DNA methylation changes in Chronic and Episodic migraine.

Degree: 2018, Università di Bologna

URL: http://amsdottorato.unibo.it/8339/1/Terlizzi_Rossana_Tesi%20.pdf ; Terlizzi, Rossana (2018) Epigenetic DNA methylation changes in Chronic and Episodic migraine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8339.

► Background: No valid biomarkers are available to detect among patients who suffer from Episodic (EM) and Chronic migraine (CM) those at greatest risk of develop… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Terlizzi, R. (2018). Epigenetic DNA methylation changes in Chronic and Episodic migraine. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/8339/1/Terlizzi_Rossana_Tesi%20.pdf ; Terlizzi, Rossana (2018) Epigenetic DNA methylation changes in Chronic and Episodic migraine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8339.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Terlizzi, Rossana. “Epigenetic DNA methylation changes in Chronic and Episodic migraine.” 2018. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/8339/1/Terlizzi_Rossana_Tesi%20.pdf ; Terlizzi, Rossana (2018) Epigenetic DNA methylation changes in Chronic and Episodic migraine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8339..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Terlizzi, Rossana. “Epigenetic DNA methylation changes in Chronic and Episodic migraine.” 2018. Web. 24 Jan 2021.

Vancouver:

Terlizzi R. Epigenetic DNA methylation changes in Chronic and Episodic migraine. [Internet] [Thesis]. Università di Bologna; 2018. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/8339/1/Terlizzi_Rossana_Tesi%20.pdf ; Terlizzi, Rossana (2018) Epigenetic DNA methylation changes in Chronic and Episodic migraine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8339..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Terlizzi R. Epigenetic DNA methylation changes in Chronic and Episodic migraine. [Thesis]. Università di Bologna; 2018. Available from: http://amsdottorato.unibo.it/8339/1/Terlizzi_Rossana_Tesi%20.pdf ; Terlizzi, Rossana (2018) Epigenetic DNA methylation changes in Chronic and Episodic migraine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8339.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

21. Moresco, Monica. Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease.

Degree: 2018, Università di Bologna

URL: http://amsdottorato.unibo.it/8397/1/Tesi%20Moresco_2018.pdf ; Moresco, Monica (2018) Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8397.

► Background: Type 1 Narcolepsy (NT1) is a central hypersomnia linked to the destruction of hypocretin-producing neurons. A great body of genetic and epidemiological data points… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Moresco, M. (2018). Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/8397/1/Tesi%20Moresco_2018.pdf ; Moresco, Monica (2018) Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8397.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Moresco, Monica. “Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease.” 2018. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/8397/1/Tesi%20Moresco_2018.pdf ; Moresco, Monica (2018) Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8397..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Moresco, Monica. “Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease.” 2018. Web. 24 Jan 2021.

Vancouver:

Moresco M. Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease. [Internet] [Thesis]. Università di Bologna; 2018. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/8397/1/Tesi%20Moresco_2018.pdf ; Moresco, Monica (2018) Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8397..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Moresco M. Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease. [Thesis]. Università di Bologna; 2018. Available from: http://amsdottorato.unibo.it/8397/1/Tesi%20Moresco_2018.pdf ; Moresco, Monica (2018) Flow cytometry analysis of T cell subsets in cerebrospinal fluid and pheriperal blood of narcolepsy type 1 patients with long lasting disease, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 30 Ciclo. DOI 10.6092/unibo/amsdottorato/8397.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

22. Giannoccaro, Maria Pia. Antibodies against neuronal surface proteins in central nervous system disorders.

Degree: 2019, Università di Bologna

URL: http://amsdottorato.unibo.it/8842/1/Giannoccaro_Maria_Pia_tesi.pdf ; Giannoccaro, Maria Pia (2019) Antibodies against neuronal surface proteins in central nervous system disorders, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 31 Ciclo.

► Over the last two decades, the discovery of antibodies directed against neuronal surface antigens in patients with different forms of encephalitis has provided a basis… (more)

▼ Over the last two decades, the discovery of antibodies directed against neuronal surface antigens in patients with different forms of encephalitis has provided a basis for immunotherapies in previously undefined disorders. These important findings have raised questions regarding the role of neuronal antibodies in patients with other possibly immune-mediated diseases. Nevertheless, the pathogenicity of specific neuronal surface antibodies has not been adequately demonstrated in animal models. The presence of neuronal surface antigens in other disorders was examined by three approaches in patients with narcolepsy type 1, in patients with chronic neurological conditions (temporal lobe epilepsy and patients with neurodegenerative disorders), and in healthy and other disease controls. To establish an animal model, antibodies against contactin-associated protein 2 (CASPR2) were injected intraperitoneally daily into mice that were given a single lipopolysaccharide injection to open the blood brain barrier. Behavioural performance was studied over five days, and the mouse brains carefully investigated for presence of bound antibodies and neuropathological changes. Overall, patients with central nervous system disorders showed a higher frequency of antibodies compared to controls, but no antibodies specific to any one disorder were identified. Mice with high serum CASPR2 antibodies showed altered working memory and anxiety-like behaviours only in a social context. There were human immunoglobulins bound to the brain parenchyma along with a mild Purkinje cell loss and astrocytosis in the cerebellum, increased c-fos expression in the piriform-entorhinal cortex and hypothalamus, and microglial and astrocyte activation. These results not only support a pathogenic role for CASPR2 antibodies but provide the first demonstration in this field that a brief opening of the blood brain barrier is sufficient to allow access of antibodies into the brain with behavioural and neuropathic consequences. These findings are of relevance to other neuronal antibodies and stimulate further work in the field.

Subjects/Keywords: MED/26 Neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Giannoccaro, M. P. (2019). Antibodies against neuronal surface proteins in central nervous system disorders. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/8842/1/Giannoccaro_Maria_Pia_tesi.pdf ; Giannoccaro, Maria Pia (2019) Antibodies against neuronal surface proteins in central nervous system disorders, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 31 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Giannoccaro, Maria Pia. “Antibodies against neuronal surface proteins in central nervous system disorders.” 2019. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/8842/1/Giannoccaro_Maria_Pia_tesi.pdf ; Giannoccaro, Maria Pia (2019) Antibodies against neuronal surface proteins in central nervous system disorders, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 31 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Giannoccaro, Maria Pia. “Antibodies against neuronal surface proteins in central nervous system disorders.” 2019. Web. 24 Jan 2021.

Vancouver:

Giannoccaro MP. Antibodies against neuronal surface proteins in central nervous system disorders. [Internet] [Thesis]. Università di Bologna; 2019. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/8842/1/Giannoccaro_Maria_Pia_tesi.pdf ; Giannoccaro, Maria Pia (2019) Antibodies against neuronal surface proteins in central nervous system disorders, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 31 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Giannoccaro MP. Antibodies against neuronal surface proteins in central nervous system disorders. [Thesis]. Università di Bologna; 2019. Available from: http://amsdottorato.unibo.it/8842/1/Giannoccaro_Maria_Pia_tesi.pdf ; Giannoccaro, Maria Pia (2019) Antibodies against neuronal surface proteins in central nervous system disorders, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 31 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

23. Baiardi, Simone. Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form.

Degree: 2019, Università di Bologna

URL: http://amsdottorato.unibo.it/9097/1/baiardi_simone_tesi.pdf ; Baiardi, Simone (2019) Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

► The first study was designed to assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease… (more)

▼ The first study was designed to assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD). To this aim, we reviewed medical records of 117 sCJDVV2, 65 sCJDMV2K, and 121 sCJDMM(V)1 subjects for symptoms/signs and neurophysiological data. We looked for the presence of PrPSc in postmortem PNS samples from 14 subjects by western blotting and real-time quaking-induced conversion (RT-QuIC) assay. Seventy-five (41.2%) VV2-MV2K patients, but only 11 (9.1%) MM(V)1, had symptoms/signs suggestive of PNS involvement and neuropathy was documented in half of the VV2-MV2K patients tested. RT-QuIC was positive in all PNS samples, whereas western blotting detected PrPSc in the sciatic nerve in only one VV2 and one MV2K. These results support the conclusion that peripheral neuropathy, likely related to PrPSc deposition, belongs to the phenotypic spectrum of sCJDMV2K and VV2, the two variants linked to the V2 strain. The second study aimed to characterize the genetic/molecular determinants of phenotypic variability in genetic CJD (gCJD). To this purpose, we compared 157 cases of gCJD to 300 of sCJD. We analyzed: demographic aspects, neurological symptoms/signs, histopathologic features and biochemical characteristics of PrPSc. The results strongly indicated that the clinicopathological phenotypes of gCJD largely overlap with those of sCJD and that the genotype at codon 129 in cis with the mutation (i.e. haplotype) contributes more than the latter to the disease phenotype. Some mutations, however, cause phenotypic variations including haplotype-specific patterns of PrPSc deposition such as the “dense” synaptic pattern (E200K-129M), the intraneuronal dots (E200K-129V), and the linear stripes perpendicular to the surface in the molecular layer of cerebellum (OPRIs-129M). Overall, these results suggest that in gCJD PRNP mutations do not cause the emergence of novel prion strains, but rather confer increased susceptibility to the disease in conjunction with “minor” clinicopathological variations.

Subjects/Keywords: MED/26 Neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Baiardi, S. (2019). Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/9097/1/baiardi_simone_tesi.pdf ; Baiardi, Simone (2019) Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Baiardi, Simone. “Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form.” 2019. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/9097/1/baiardi_simone_tesi.pdf ; Baiardi, Simone (2019) Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Baiardi, Simone. “Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form.” 2019. Web. 24 Jan 2021.

Vancouver:

Baiardi S. Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form. [Internet] [Thesis]. Università di Bologna; 2019. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/9097/1/baiardi_simone_tesi.pdf ; Baiardi, Simone (2019) Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Baiardi S. Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form. [Thesis]. Università di Bologna; 2019. Available from: http://amsdottorato.unibo.it/9097/1/baiardi_simone_tesi.pdf ; Baiardi, Simone (2019) Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

24. Stipa, Carlotta. Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre.

Degree: 2019, Università di Bologna

URL: http://amsdottorato.unibo.it/9133/1/Stipa_Carlotta_tesi.pdf ; Stipa, Carlotta (2019) Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

► Objectives: To fully re-evaluate patients with early-onset epilepsy and intellectual disability with neurological, neurophysiological and neuropsychological examination in order to contribute to expanding the phenotypic… (more)

▼ Objectives: To fully re-evaluate patients with early-onset epilepsy and intellectual disability with neurological, neurophysiological and neuropsychological examination in order to contribute to expanding the phenotypic spectrum of known epileptic encephalopathy (EE)-related genes and to identify novel genetic defects underlying EEs. Methods: We recruited patients with epilepsy and intellectual disability (ID) referring to our Epilepsy Centre. Patients underwent full clinical and neurophysiologic evaluation. When possible they underwent neuroradiologic investigations. Selected cases also underwent genetic analysis. Results: We recruited 200 patients (109 M, 91 F; mean age 36 years old). Mean age at epilepsy onset was 4 years old. The degree of ID was borderline in 4.5% of patients, mild in 25%, moderate in 38% and severe in 32.5%. EEG showed epileptiform abnormalities in 79.5% of patients. One hundred and thirty-one patients out of the 200 recruited (65.5%) did not have an aetiological diagnosis. All the patients underwent full clinical reassessment and when necessary they performed neuroradiologic and genetic investigations as well. We identified 35 patients with a genetic aetiology. In 8 cases a structural brain lesion was observed. In 33 patients, a genetic aetiology was identified. In 2 patients with drug-resistant seizures video-EEG allowed the identification of non-epileptic seizures, and in one patient we discontinued anti-epileptic drugs. In these patients, the aetiological diagnosis was made after 30 years (range 9-60 years) from the disease onset. Conclusions: In a population of 200 adult patients with epilepsy and ID, an aetiological cause was identified in 45 patients after 30 years from the disease onset. Aetiological diagnosis, especially if genetic, has significant positive implications for patients, even if it has been made after years from the beginning of the disease. Benefits include better-focused antiepileptic drug (AED) choice, sparing of further unnecessary investigations and improved knowledge of comorbidities.

Subjects/Keywords: MED/26 Neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Stipa, C. (2019). Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/9133/1/Stipa_Carlotta_tesi.pdf ; Stipa, Carlotta (2019) Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Stipa, Carlotta. “Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre.” 2019. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/9133/1/Stipa_Carlotta_tesi.pdf ; Stipa, Carlotta (2019) Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Stipa, Carlotta. “Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre.” 2019. Web. 24 Jan 2021.

Vancouver:

Stipa C. Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre. [Internet] [Thesis]. Università di Bologna; 2019. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/9133/1/Stipa_Carlotta_tesi.pdf ; Stipa, Carlotta (2019) Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Stipa C. Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre. [Thesis]. Università di Bologna; 2019. Available from: http://amsdottorato.unibo.it/9133/1/Stipa_Carlotta_tesi.pdf ; Stipa, Carlotta (2019) Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

25. Loddo, Giuseppe. Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto.

Degree: 2019, Università di Bologna

URL: http://amsdottorato.unibo.it/9146/1/Loddo%C2%AD_Giuseppe_Doa%C2%AD.pdf ; Loddo, Giuseppe (2019) Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

►

Introduzione I disturbi dell’arousal (DOA) comprendono: risvegli confusi, sonnambulismo e terrore notturno. Tali disturbi, negli adulti, spesso non hanno le caratteristiche di benignità presenti nei… (more)

▼

Introduzione I disturbi dell’arousal (DOA) comprendono: risvegli confusi, sonnambulismo e terrore notturno. Tali disturbi, negli adulti, spesso non hanno le caratteristiche di benignità presenti nei bambini. Inoltre, vanno distinti da altri eventi motori in sonno come l’epilessia sonno-correlata con crisi ipermotorie (SHE), caratterizzata da manifestazioni motorie di intensità e durata crescente come gli arousal parossistici, le crisi ipermotorie complesse e il sonnambulismo epilettico. Obiettivi Obiettivo dello studio è: descrivere le caratteristiche cliniche e semeiologiche dei DOA nell’adulto; caratterizzare gli episodi da un punto di vista motorio con particolare riferimento alla diagnosi differenziale con la SHE. Metodi La popolazione comprende un gruppo di pazienti adulti affetti da DOA, SHE e soggetti sani sottoposti a videopolisonnografia notturna (VPSG). Le VPSG sono state analizzate da 2 neurologi con esperienza in disturbi del sonno ed epilessia che hanno identificato e classificato tutti i movimenti e gli episodi ad insorgenza dal sonno. Risultati Sono stati arruolati 60 pazienti affetti da DOA, 30 affetti da SHE e 15 soggetti sani. Sono state analizzate 114 VPSG in cui sono stati registrati 334 episodi di DOA e 140 arousal parossistici. Sono stati individuati tre diversi pattern motori specifici dei DOA in età adulta di complessità ed intensità crescente: i movimenti semplici associati all’arousal; i movimenti di sollevamento associati all’arousal; i movimenti complessi associati all’arousal. Gli episodi minori dei DOA differiscono da quelli della SHE per durata, fase d’esordio dal sonno, coinvolgimento degli arti e comportamenti. Nei pazienti con DOA gli episodi maggiori e minori esordiscono più frequentemente nella fase 3 di sonno NREM e, nei pazienti con SHE, nella fase 2 di sonno NREM. Conclusioni Lo studio ha permesso di descrivere le caratteristiche cliniche e videopolisonnografiche dei DOA negli adulti fornendo elementi essenziali per la diagnosi differenziale con la SHE.

Introduction Arousal Disorders (DOA) include Confusional Arousal, Sleepwalking and Sleep Terrors. Adult DOA do not seem to be harmless, as in childhood, and need to be differentiated from other sleep disorders such as Sleep Hypermotor Epilepsy (SHE) in which seizures have an increasing intensity and duration ranging from paroxysmal arousal to hyperkinetic seizures and epileptic nocturnal wandering. Objectives To describe the clinical and semeiological features of DOA in adulthood; to characterize the motor features of the episodes in order to identify key features that can assist in the differential diagnosis with SHE. Methods The study involved adult DOA and SHE patients and healthy subjects who underwent a full-night videopolysomnography (VPSG). All VPSGs were analyzed by 2 neurologists with experience in sleep disorders and epilepsy who identified all movements and episodes arising from sleep. Results Sixty DOA, 30 SHE patients, and 15 healthy subjects have been enrolled. A total of 114 VPSG have been…

Subjects/Keywords: MED/26 Neurologia

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Loddo, G. (2019). Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/9146/1/Loddo%C2%AD_Giuseppe_Doa%C2%AD.pdf ; Loddo, Giuseppe (2019) Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Loddo, Giuseppe. “Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto.” 2019. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/9146/1/Loddo%C2%AD_Giuseppe_Doa%C2%AD.pdf ; Loddo, Giuseppe (2019) Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Loddo, Giuseppe. “Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto.” 2019. Web. 24 Jan 2021.

Vancouver:

Loddo G. Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto. [Internet] [Thesis]. Università di Bologna; 2019. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/9146/1/Loddo%C2%AD_Giuseppe_Doa%C2%AD.pdf ; Loddo, Giuseppe (2019) Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Loddo G. Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto. [Thesis]. Università di Bologna; 2019. Available from: http://amsdottorato.unibo.it/9146/1/Loddo%C2%AD_Giuseppe_Doa%C2%AD.pdf ; Loddo, Giuseppe (2019) Dai risvegli confusi al sonnambulismo: aspetti clinici, videopolisonnografici e diagnosi differenziale dei disturbi dell'arousal nell'adulto, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze biomediche e neuromotorie <http://amsdottorato.unibo.it/view/dottorati/DOT551/>, 32 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

26. Antelmi, Elena. Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep.

Degree: 2017, Università di Bologna

URL: http://amsdottorato.unibo.it/7849/1/Antelmi_Elena_Tesi.pdf ; Antelmi, Elena (2017) Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/7849.

► Dystonia is a movement disorder causing abnormal movements and postures. Dystonia is the result of a network disorder, largely linked to abnormal inhibition affecting several… (more)

▼ Dystonia is a movement disorder causing abnormal movements and postures. Dystonia is the result of a network disorder, largely linked to abnormal inhibition affecting several levels of the central nervous system. The PhD thesis at issue explores different aspects of dystonia pathophysiology in prospective cohorts of patients with isolated idiopathic cervical dystonia. Indeed, the dissertation reports on the assessment of cerebellar functioning in patients affected with cervical dystonia, by applying the cerebellar classical conditioning paradigm. Results showed that cerebellar abnormalities segregated with the presence of tremor in patients with dystonia, accounting for a discrete role of cerebellum in generating dystonic tremor (Chapter 2). Along with the cerebellum, also the role of sensory system has been evaluated (Chapter 3), by means of an extensive paradigm aiming at testing markers of reduced inhibition within the somatosensory system and to assess their role in affecting temporal discrimination time in dystonia, which has been lately recognized as an endophenotypic trait of dystonia. The results showed impaired inhibition affecting several levels of the somatosensory system. However, only measurements of local (intracortical) inhibition correlated with abnormal temporal processing in dystonia. Finally, the thesis repots on the study of the pattern of muscles activity through all the night along with the objective evaluation of sleep quality by means of polysomnography in cervical dystonia (Chapter 4). The study showed the virtual disappearance of dystonia during sleep, leading to suppose that sleep might preserve a homeostatic role in these patients. However, architecture of sleep turned to be affected. Abnormal sleep structure did not correlated with motor descriptors and therefore seems to be a discrete feature of dystonia and to deserve a specific consideration. To improve the knowledge of pathogenic pathways in dystonia will hopefully lead to the discovery of new therapeutic targets in this condition.

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Antelmi, E. (2017). Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/7849/1/Antelmi_Elena_Tesi.pdf ; Antelmi, Elena (2017) Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/7849.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Antelmi, Elena. “Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep.” 2017. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/7849/1/Antelmi_Elena_Tesi.pdf ; Antelmi, Elena (2017) Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/7849..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Antelmi, Elena. “Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep.” 2017. Web. 24 Jan 2021.

Vancouver:

Antelmi E. Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep. [Internet] [Thesis]. Università di Bologna; 2017. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/7849/1/Antelmi_Elena_Tesi.pdf ; Antelmi, Elena (2017) Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/7849..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Antelmi E. Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep. [Thesis]. Università di Bologna; 2017. Available from: http://amsdottorato.unibo.it/7849/1/Antelmi_Elena_Tesi.pdf ; Antelmi, Elena (2017) Idiopatic Isolated Focal Dystonia: from Impaired Inhibition to Modulation of Dystonic Activity During Sleep, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche <http://amsdottorato.unibo.it/view/dottorati/DOT522/>, 29 Ciclo. DOI 10.6092/unibo/amsdottorato/7849.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

27. Marconi, Sara. Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study .

Degree: 2013, Università di Bologna

URL: http://amsdottorato.unibo.it/5343/1/marconi_sara_tesi.pdf ; Marconi, Sara (2013) Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study , [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 25 Ciclo. DOI 10.6092/unibo/amsdottorato/5343.

► Objective: to evaluate the psychopathological profile in primary Restless Legs Syndrome (p-RLS) patients with and without nocturnal eating disorder (NED), analysing obsessive-compulsive traits, mood and… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Marconi, S. (2013). Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study . (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/5343/1/marconi_sara_tesi.pdf ; Marconi, Sara (2013) Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study , [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 25 Ciclo. DOI 10.6092/unibo/amsdottorato/5343.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Marconi, Sara. “Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study .” 2013. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/5343/1/marconi_sara_tesi.pdf ; Marconi, Sara (2013) Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study , [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 25 Ciclo. DOI 10.6092/unibo/amsdottorato/5343..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Marconi, Sara. “Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study .” 2013. Web. 24 Jan 2021.

Vancouver:

Marconi S. Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study . [Internet] [Thesis]. Università di Bologna; 2013. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/5343/1/marconi_sara_tesi.pdf ; Marconi, Sara (2013) Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study , [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 25 Ciclo. DOI 10.6092/unibo/amsdottorato/5343..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Marconi S. Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study . [Thesis]. Università di Bologna; 2013. Available from: http://amsdottorato.unibo.it/5343/1/marconi_sara_tesi.pdf ; Marconi, Sara (2013) Psychiatric comorbidity, Restless Legs Syndrome and Nocturnal Eating Disorder: a case-control study , [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 25 Ciclo. DOI 10.6092/unibo/amsdottorato/5343.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

28. Drago, Valeria. Cyclic alternating pattern in sleep and its relationship to creativity.

Degree: 2011, Università di Bologna

URL: http://amsdottorato.unibo.it/4036/1/Drago_Valeria_tesi.pdf ; Drago, Valeria (2011) Cyclic alternating pattern in sleep and its relationship to creativity, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

► Background/Objectives: Sleep has been shown to enhance creativity, but the reason for this enhancement is not entirely known. There are several different physiological states associated… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Drago, V. (2011). Cyclic alternating pattern in sleep and its relationship to creativity. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/4036/1/Drago_Valeria_tesi.pdf ; Drago, Valeria (2011) Cyclic alternating pattern in sleep and its relationship to creativity, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Drago, Valeria. “Cyclic alternating pattern in sleep and its relationship to creativity.” 2011. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/4036/1/Drago_Valeria_tesi.pdf ; Drago, Valeria (2011) Cyclic alternating pattern in sleep and its relationship to creativity, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Drago, Valeria. “Cyclic alternating pattern in sleep and its relationship to creativity.” 2011. Web. 24 Jan 2021.

Vancouver:

Drago V. Cyclic alternating pattern in sleep and its relationship to creativity. [Internet] [Thesis]. Università di Bologna; 2011. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/4036/1/Drago_Valeria_tesi.pdf ; Drago, Valeria (2011) Cyclic alternating pattern in sleep and its relationship to creativity, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Drago V. Cyclic alternating pattern in sleep and its relationship to creativity. [Thesis]. Università di Bologna; 2011. Available from: http://amsdottorato.unibo.it/4036/1/Drago_Valeria_tesi.pdf ; Drago, Valeria (2011) Cyclic alternating pattern in sleep and its relationship to creativity, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

29. Marelli, Sara. Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine.

Degree: 2011, Università di Bologna

URL: http://amsdottorato.unibo.it/4052/1/Marelli_Sara_tesi.pdf ; Marelli, Sara (2011) Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

► Several studies showed that sleep loss/fragmentation may have a negative impact on cognitive performance, mood and autonomic activity. Specific neurocognitive domains, such as executive function… (more)

▼ Several studies showed that sleep loss/fragmentation may have a negative impact on cognitive performance, mood and autonomic activity. Specific neurocognitive domains, such as executive function (i.e.,prefrontal cortex), seems to be particularly vulnerable to sleep loss. Pearson et al.(2006) evaluated 16 RLS patients compared to controls by cognitive tests, including those particularly sensitive to prefrontal cortical (PFC) functioning and sleep loss. RLS patients showed significant deficits on two of the three PFC tests. It has been recently reported that RLS is associated with psychiatric manifestations. A high prevalence of depressive symptoms has been found in patients with RLS(Rothdach AJ et al., 2000). RLS could cause depression through its adverse influences on sleep and energy. On the other hand, symptoms of depression such as sleep deprivation, poor nutrition or lack of exercise may predispose an individual to the development of RLS. Moreover, depressed patients may amplify mild RLS, making occasional RLS symptoms appear to meet threshold criteria. The specific treatment of depression could be also implicated, since antidepressant compounds may worsen RLS and PLMD(Picchietti D et al., 2005; Damsa C et al., 2004). Interestingly, treatments used to relieve RLS symptoms (dopamine agonists) seem to have an antidepressant effects in RLS depressed patients(Saletu M et al., 2002&2003). During normal sleep there is a well-regulated pattern of the autonomic function, modulated by changes in sleep stages. It has been reported that chronic sleep deprivation is associated with cardiovascular events. In patients with sleep fragmentation increased number of arousals and increased cyclic alternating pattern rate is associated with an increase in sympathetic activity. It has been demonstrated that PLMS occurrence is associated with a shift to increased sympathetic activity without significant changes in cardiac parasympathetic activity (Sforza E et al., 2005). An increased association of RLS with hypertension and heart disease has been documented in several studies(Ulfberg J et al., 2001; Ohayon MM et al., 2002).

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Marelli, S. (2011). Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/4052/1/Marelli_Sara_tesi.pdf ; Marelli, Sara (2011) Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Marelli, Sara. “Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine.” 2011. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/4052/1/Marelli_Sara_tesi.pdf ; Marelli, Sara (2011) Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Marelli, Sara. “Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine.” 2011. Web. 24 Jan 2021.

Vancouver:

Marelli S. Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine. [Internet] [Thesis]. Università di Bologna; 2011. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/4052/1/Marelli_Sara_tesi.pdf ; Marelli, Sara (2011) Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Marelli S. Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine. [Thesis]. Università di Bologna; 2011. Available from: http://amsdottorato.unibo.it/4052/1/Marelli_Sara_tesi.pdf ; Marelli, Sara (2011) Attività autonomica cardiaca e funzioni neurocognitive nei pazienti affetti da sindrome delle gambe senza riposo (RLS): effetto dei farmaci dopamino agonisti in acuto e a lungo termine, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Università di Bologna

30. Bellan, Marzio. Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia.

Degree: 2011, Università di Bologna

URL: http://amsdottorato.unibo.it/4137/1/bellan_marzio_tesi_pdf.pdf ; Bellan, Marzio (2011) Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

► La narcolessia è un disturbo del sonno disabilitante caratterizzato da eccessiva sonnolenza diurna associata a disturbi del sonno REM che si manifestano con cataplessia (improvvisa… (more)

Subjects/Keywords: MED/26 Neurologia

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APA (6^th Edition):

Bellan, M. (2011). Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia. (Thesis). Università di Bologna. Retrieved from http://amsdottorato.unibo.it/4137/1/bellan_marzio_tesi_pdf.pdf ; Bellan, Marzio (2011) Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Bellan, Marzio. “Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia.” 2011. Thesis, Università di Bologna. Accessed January 24, 2021. http://amsdottorato.unibo.it/4137/1/bellan_marzio_tesi_pdf.pdf ; Bellan, Marzio (2011) Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Bellan, Marzio. “Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia.” 2011. Web. 24 Jan 2021.

Vancouver:

Bellan M. Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia. [Internet] [Thesis]. Università di Bologna; 2011. [cited 2021 Jan 24]. Available from: http://amsdottorato.unibo.it/4137/1/bellan_marzio_tesi_pdf.pdf ; Bellan, Marzio (2011) Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Bellan M. Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia. [Thesis]. Università di Bologna; 2011. Available from: http://amsdottorato.unibo.it/4137/1/bellan_marzio_tesi_pdf.pdf ; Bellan, Marzio (2011) Studio degli aplogruppi mitocondriali nei pazienti con narcocataplessia, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 2 "Medicina del sonno" <http://amsdottorato.unibo.it/view/dottorati/DOT438/>, 23 Ciclo.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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And / Or
		in

Open Access Theses and Dissertations