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Relevant bibliographies by topics / Clinical Neurology / Dissertations / Theses

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Dissertations / Theses on the topic 'Clinical Neurology'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Lindh, Jonas. "Cryptogenic Polyneuropathy : Clinical, Environmental, And Genetic Studies." Doctoral thesis, Linköpings universitet, Neurologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-71215.

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Objectives: The purpose of this medical thesis was to describe the clinical and neurophysiological features and to evaluate the health related quality of life (HR-QoL) in patients with cryptogenic polyneuropathy. We also wanted to investigate different occupational, and leisure time exposures as determinants for cryptogenic polyneuropathy, and to analyze whether polymorphisms for the null alleles of Glutathione S-Transferase Mu-1 (GSTM1), and Theta-1 (GSTT1), and a low activity genetic variation of epoxide hydrolase (EPHX) affect the risk of developing polyneuropathy. These genes were chosen b

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2

Ferreira, Adriana Filipa da Silva. "Curricular training report: clinical trials coordination in neurology." Master's thesis, Universidade de Aveiro, 2015. http://hdl.handle.net/10773/21557.

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Mestrado em Biomedicina Farmacêutica<br>O presente relatório descreve as atividades desenvolvidas durante o estágio curricular como coordenadora de investigação clínica, que teve lugar na Unidade de Farmacologia Clínica do Instituto de Medicina Molecular e decorreu de Setembro de 2014 a Junho de 2015. A principal atividade desempenhada durante este estágio foi a coordenação de ensaios clínicos na área da neurologia, nomeadamente ensaios de fase II, III e IV. Foram desenvolvidas outras atividades, tais como gestão de dados clínicos, atividades de farmacovigilância e escrita científica e monito

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3

Nygren, Ingela. "ALS - a clinical thesis /." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4804.

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4

Blanco, Núñez Igor D. "Diffuse optical monitoring of cerebral hemodynamics in experimental and clinical neurology." Doctoral thesis, Universitat Politècnica de Catalunya, 2015. http://hdl.handle.net/10803/285634.

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The study of the brain using diffuse optical methods has progressed rapidly in the recent years. The possibility of studying the cerebral microvasculature in addition to the portability and low cost of these devices, opens a new door in the study of the cerebral pathophysiologies. In this scenario, the study of the cerebral hemodynamics of ischemic patients might allow neurologists to improve the performance of the early medical treatments and therapies used up to date. In this thesis, I have conducted a pioneering study where cerebral autoregulation was studied in ischemic stroke patients d

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5

Zuberi, Sameer Mustafa. "A clinical and genetic study of ion channel disorders in child neurology." Thesis, University of Edinburgh, 2010. http://hdl.handle.net/1842/29438.

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Ion channels are macromolecular proteins in cell membranes that control the passage of charged particles including sodium, potassium and calcium ions in and out of cells. Rapid electrical signalling in the nervous system is mediated through the passage of ions through these channels. It is therefore not surprising that genetic mutations in the genes coding for these channels can result in neurological disease. Ion channel disorders or channelopathies have emerged in the last ten to fifteen years as an important new way of understanding neurological disease. Many of these conditions are paroxys

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6

Van, Coller Riaan. "A clinical, neurophysiological and genetic study of South African familial combined myoclonic syndromes." Thesis, University of Pretoria, 2021. http://hdl.handle.net/2263/78827.

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Myoclonus is a complex disorder of rapid repetitive muscle jerks that can occur in proximal or distal appendicular or axial muscles. It can be of cortical, sub-cortical or spinal cord origin; part of progressive and severely disabling epilepsy syndromes, basal ganglia conditions, and physiological or even functional (psychogenic)1. A systematic review of the literature shows the knowledge gap of the genetic causes of myoclonus in South Africa with 25 identified publications from Africa of which eleven were from South Africa. Publications varied from case studies to case series and included

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7

Lindström, Per. "Diabetic neuropathy : clinical and experimental studies /." Stockholm, 1997. http://diss.kib.ki.se/1997/19971003lind.

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8

Albernaz, Raquel Mincarelli [UNESP]. "Aspectos clínicos e radiográficos da coluna cervical de bezerros submetidos a Prova do Laço." Universidade Estadual Paulista (UNESP), 2006. http://hdl.handle.net/11449/89034.

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Made available in DSpace on 2014-06-11T19:23:42Z (GMT). No. of bitstreams: 0 Previous issue date: 2006-07-27Bitstream added on 2014-06-13T20:30:35Z : No. of bitstreams: 1 albernaz_rm_me_jabo.pdf: 606225 bytes, checksum: fc8139f6f3b1c020259e97b3cecff7e3 (MD5)<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)<br>A modalidade de rodeio denominada Prova do Laço de Bezerro tem sido questionada sobre a ocorrência de possíveis lesões nas vértebras cervicais ocasionadas pela tração da corda no pescoço dos bezerros. Neste trabalho avaliou-se 15 bezerros mestiços, machos ou fêmeas

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Al, Talalwah Waseem. "The vascular variability of the iliac system and clinical diagnosis in radiology and neurology." Thesis, University of Dundee, 2013. https://discovery.dundee.ac.uk/en/studentTheses/1aa955a0-1289-4670-b226-0eea5425ae0b.

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The sciatic nerve is the largest nerve in the human body giving both motor and sensory innervations to the lower limb. It can be affected in chronic diseases, such as diabetes, or compressed anatomically by structures such as piriformis and aneurysms leading to sciatica or paralysis of the lower limb. The current study therefore focuses on the arterial supply of the sciatic nerve as well as its course. Embryologically, the sciatic nerve is supplied via the axial artery during the first trimester. As the axial artery regresses, the iliac system develops. A failure of sciatic artery regression l

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10

Quintas, Inês de Avelar Teixeira Califórnia. "Canine intracranial pachymeningeal enhancement : a study of 2 clinical cases." Master's thesis, Universidade de Lisboa, Faculdade de Medicina Veterinária, 2019. http://hdl.handle.net/10400.5/18989.

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Dissertação de Mestrado integrado em Medicina Veterinária<br>Post-contrast pachymeningeal enhancement, synonymous of post-contrast dural or dura-arachnoid enhancement, is an imaging feature best appreciated on a contrast-enhanced magnetic resonance imaging (MRI). In humans, it may arise from various benign or malignant clinical processes, such as transient postoperative changes, intracranial hypotension or primary neoplasms, including meningiomas and secondary central nervous system lymphoma, and metastatic disease. The present study describes two clinical cases of canine diffuse intracranial

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11

Danielsson, Olof. "The Clinical and Pathological Spectrum of Idiopathic Inflammatory Myopathies : Implications for pathogenesis, classification and diagnosis." Doctoral thesis, Linköpings universitet, Avdelningen för neuro- och inflammationsvetenskap, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-132768.

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Background: Idiopathic inflammatory myopathies (IIM) constitute a heterogeneous group of diseases with severe consequences for the life of affected patients. Dermatomyositis, polymyositis and inclusion body myositis (IBM) are the classical representatives of this group. The treatments given today often have limited effects, and are taken at the cost of side effects. Major obstacles in the search for more effective treatments are; (1) an incomplete understanding of the disease mechanisms, (2) difficulties to delineate homogeneous disease groups for clinical studies and (3) the sometimes challen

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Yue, Weiping Biotechnology &amp Biomolecular Sciences Faculty of Science UNSW. "Predicting the citation impact of clinical neurology journals using structural equation modeling with partial least squares." Awarded by:University of New South Wales. School of Biotechnology and Biomolecular Sciences, 2004. http://handle.unsw.edu.au/1959.4/20821.

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The ongoing debate on the evaluative role of citation analysis and the theory of citation recognizes that the citation process is complex and that citation counts are affected by certain extra-scientific or external factors. To date, little effort has been made to explore the effects of various external factors; this thesis addresses this lack. In the context of the various perspectives on citations and citation analysis, this study uses journals as the unit of analysis and investigates what, how, and to what extent extra-scientific factors influence the citation impact of journals. An integra

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13

LeCouteur, Richard Andrew. "Novel approaches to the diagnosis and treatment of brain tumours, and other investigations in clinical neurology." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/25082.

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The primary goal of this thesis is to report results of a veterinary clinician-scientist’s career in the field of brain tumor research. The overarching goal of the research was to establish spontaneous canine gliomas as a model for brain tumor research in humans, and to reduce the translational gap between pre-clinical studies in mice, and human clinical trials. An ideal pre-clinical model for human brain tumour research would be a tumour that: (1) arises spontaneously; (2) grows intra-parenchymally; (3) is uniformly and rapidly fatal; (4) is capable of growing in vitro; (5) is transplantable

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Le, Couteur Richard Andrew. "Novel approaches to the diagnosis and treatment of brain tumours, and other investigations in clinical neurology." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/27406.

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The primary goal of this thesis is to report results of a veterinary clinician-scientist’s career in the field of brain tumor research. The overarching goal of the research was to establish spontaneous canine gliomas as a model for brain tumor research in humans, and to reduce the translational gap between pre-clinical studies in mice, and human clinical trials. An ideal pre-clinical model for human brain tumour research would be a tumour that: (1) arises spontaneously; (2) grows intra-parenchymally; (3) is uniformly and rapidly fatal; (4) is capable of growing in vitro; (5) is transplantable

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15

Szewczyk-Krolikowski, Konrad. "Clinical and imaging characteristics of early Parkinson's disease." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:c118f620-19a9-4d0c-bcfc-018e3dd9ff3d.

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<strong>Background</strong>. Pathological processes in Parkinson’s disease (PD) start long before the first symptoms appear and by the time the disease is clinically established the results of neurodegeneration may be irreversible. Efforts to prevent or stem disease progression need to start in early disease and good characterization and new markers of early PD are urgently needed. <strong>Objectives</strong>. This thesis aims to characterize early disease stages in three projects. Firstly, clinical features of PD within 3 years of diagnosis will be explored in an incident cohort of patients a

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16

Pedro, Adriana Caria. "Análise e interpretação de líquido cefalorraquidiano em cães na prática clínica : estudo retrospetivo de 130 casos." Master's thesis, Universidade de Lisboa, Faculdade de Medicina Veterinária, 2018. http://hdl.handle.net/10400.5/15252.

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Dissertação de Mestrado Integrado em Medicina Veterinária<br>A análise de Líquido Cefalorraquidiano (LCR) é um exame complementar de diagnóstico extremamente útil, pois permite o acesso a informações relativas à saúde neurológica dos pacientes. Esta é frequentemente realizada com o propósito de auxiliar no processo diagnóstico ou para o controlo da evolução clínica dos doentes. Com o presente estudo procurou-se conhecer a realidade clínica associada a este exame, desde os sinais clínicos dos cães a que é colhido LCR, passando pelos resultados desta análise, até ao desfecho clínico dos episódio

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17

Albernaz, Raquel Mincarelli. "Aspectos clínicos e radiográficos da coluna cervical de bezerros submetidos a Prova do Laço /." Jaboticabal : [s.n.], 2006. http://hdl.handle.net/11449/89034.

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Orientador: José Corrêa de Lacerda Neto<br>Banca: Gelson Genaro<br>Banca: Claudia Acosta Duarte<br>Resumo: A modalidade de rodeio denominada Prova do Laço de Bezerro tem sido questionada sobre a ocorrência de possíveis lesões nas vértebras cervicais ocasionadas pela tração da corda no pescoço dos bezerros. Neste trabalho avaliou-se 15 bezerros mestiços, machos ou fêmeas, entre cinco e seis meses de idade experimentalmente submetidos a prova do laço. Os animais foram laçados três vezes por semana, em dias alternados, durante cinco semanas, somando o total geral de 225 laçadas. A prova experimen

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18

Niklewski, Paul J. "Surrogates, In-Vitro, and Clinical Investigations into the Safety and Effectiveness of Anesthesia." University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1383644949.

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19

Lundin, Anna-Carin. "Tendinosis in Trigger Finger." Doctoral thesis, Linköpings universitet, Avdelningen för Kirurgi, Ortopedi och Onkologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-136784.

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Trigger finger is one of the most common hand conditions, with a prevalence of almost 3%. The aetiology remains unclear even though many causes have been suggested. The prevailing paradigm is that the pathogenesis of trigger finger is ascribed to primary changes in the first fibrous condensation of the tendon sheath (A1-pulley). Several studies have investigated pathology in the pulley, but few have investigated the tendon. The general aim of this thesis was to find out if there is pathology in the trigger finger tendon and to define it. We first looked at trigger finger tendon biopsies in a l

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20

Feng, Jenny J. "DEPRESSION IN MULTIPLE SCLEROSIS IS ASSOCIATED WITH WORSENING DISEASE-ANALYSIS OF A LARGE REAL WORLD COHORT OF RELAPSING-REMITTING MULTIPLE SCLEROSIS PATIENTS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case1607518627442055.

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21

Lilja, Johan. "[18F]Flutemetamol PET image processing, visualization and quantification targeting clinical routine." Doctoral thesis, Uppsala universitet, Radiologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-317688.

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Alzheimer’s disease (AD) is the leading cause of dementia and is alone responsible for 60-70% of all cases of dementia. Though sharing clinical symptoms with other types of dementia, the hallmarks of AD are the abundance of extracellular depositions of β-amyloid (Aβ) plaques, intracellular neurofibrillary tangles of hyper phosphorylated tau proteins and synaptic depletion. The onset of the physiological hallmarks may precede clinical symptoms with a decade or more, and once clinical symptoms occur it may be difficult to separate AD from other types of dementia based on clinical symptoms alone.

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22

Miralbell, Blanch Júlia. "Biomarkers of cognitive decline and dementia." Doctoral thesis, Universitat de Barcelona, 2012. http://hdl.handle.net/10803/91068.

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Cognitive impairment in the elderly encompasses many forms, ranging from subtle impairments in otherwise cognitively healthy individuals through mild cognitive impairment and dementia. Brain structural and functional changes underlie the observed cognitive impairment. Complementary to the clinical observation, biomarkers have been proposed as in vivo indicators of the underlying pathophysiology and neurobiological changes in a sufficiently reliable manner that they could be used to detect, track, and predict the disease course over time. In this thesis we used a combination of epidemio

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23

Hersh, Carrie M. "Comparative Efficacy and Adherence of Dimethyl Fumarate and Fingolimod in Clinical Practice." Case Western Reserve University School of Graduate Studies / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=case1445944219.

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24

Коленко, Оксана Іванівна, Оксана Ивановна Коленко та Oksana Ivanivna Kolenko. "Роль внеаудиторной работы в формировании клинического мышления". Thesis, Сумский государственный университет, 2016. http://essuir.sumdu.edu.ua/handle/123456789/48058.

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Несмотря на появление огромного количества высокотехнологичных методик, топическая диагностика остается фундаментом клинической неврологии, так как правильная локализация очага поражения является основой распознавания заболеваний нервной системы. Перемещение образовательного процесса от постели больного в компьютерные классы и Всемирную паутину не всегда в полной мере способствует формированию правильного подхода у будущих специалистов к процессу диагностики.

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Nosadini, Margherita. "Clinical and therapeutic decision making in paediatric autoimmune and inflammatory neurological disease." Doctoral thesis, Università degli studi di Padova, 2017. http://hdl.handle.net/11577/3427168.

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ABSTRACT 1. Background. Paediatric neuroimmunology is a rapidly evolving field both as regards clinical-radiological phenotyping, biomarker development, and therapeutic possibilities. In this latter aspect, while a growing armamentarium of treating agents is becoming available, this is not mirrored by quality evidence and definite recommendations on treatment strategies, drugs’ efficacy and tolerability. This is especially true in paediatric age, where most data is derived from adult studies. Objective. To investigate clinical and therapeutic aspects of decision making in paediatric autoi

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26

Carvajal, González Alexander. "Glycine receptor antibodies : pathogenic mechanisms and clinical correlates." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:8d9e92c6-6c02-4d62-b3fc-086d8dd297a5.

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Glycine receptor antibodies have been identified in a few patients with progressive encephalomyelitis with rigidity and myoclonus (PERM), a highly disabling disorder characterised by rigidity, spasm and brainstem symptomatology. The clinical characteristics of patients with glycine receptor antibodies have not yet been fully described and it is not clear whether GlyR-Abs are pathogenic or just an epiphenomenon. This study examined the clinical features and immunotherapy responses of 45 patients; characterised the GlyR-Ab pathogenicity, subunit specificity and binding to different brain region

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Cruickshank, Travis Miles. "The clinical utility of multidisciplinary rehabilitation in individuals with Huntington’s Disease." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2015. https://ro.ecu.edu.au/theses/1586.

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Background Huntington’s disease (HD) is a chronic neurodegenerative disorder characterised by a progressive loss of cognitive function, motor control and psychiatric features. Individuals also display a variety of systemic features. Progressive neuronal dysfunction and neuronal cell death are thought to underlie the onset and progression of many clinical features of HD. Despite scientific progress, there is still no cure or disease modifying therapy for HD, and available pharmaceutical agents only provide partial relief of motor and psychiatric features. An emerging body of evidence indicates

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Dorward, Benjamin J. "Specialists or Specialising Generalists A Grounded Theory of the Role of the Clinical Pharmacist in Neuroscience." Thesis, University of Bradford, 2014. http://hdl.handle.net/10454/13940.

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Neuroscience is a relatively small and emerging clinical pharmacy specialism focusing on drug therapy for neurological disease. Against a professional momentum for specialist practice within pharmacy, there is paucity both of relevant research, and a clearly defined role for specialist pharmacy practice in neuroscience. A qualitative research study was undertaken, using constructivist grounded theory method, to explore how hospital based pharmacists practicing in neuroscience define and develop their role and specialism. Data were concurrently generated and analysed, through verbatim transcrip

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Fridman, Leticia. "Histopathological Characterization of the Dystrophic Phenotype and Development of Therapeutic Candidates for a Gene Therapy Pre-Clinical Study in Dysferlin Deficient Mice." eScholarship@UMMS, 2009. http://escholarship.umassmed.edu/gsbs_diss/881.

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Dysferlin deficient muscular dystrophy is a devastating disease that leads to loss of mobility and quality of life in patients. Dysferlin is a 230 kD protein primarily expressed in skeletal muscle that functions in membrane resealing. Dysferlin loss of function leads to a decrease in the membrane resealing response after injury in skeletal muscle, which is thought to cause degeneration of the musculature over time. Dysferlin cDNA is 7.4 kb and exceeds AAV packaging capacity of ~ 5kb. This thesis focuses on the generation of mini dysferlin mutants that can be packaged in AAV for downstream test

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Fridman, Leticia. "Histopathological Characterization of the Dystrophic Phenotype and Development of Therapeutic Candidates for a Gene Therapy Pre-Clinical Study in Dysferlin Deficient Mice." eScholarship@UMMS, 2016. https://escholarship.umassmed.edu/gsbs_diss/881.

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Dysferlin deficient muscular dystrophy is a devastating disease that leads to loss of mobility and quality of life in patients. Dysferlin is a 230 kD protein primarily expressed in skeletal muscle that functions in membrane resealing. Dysferlin loss of function leads to a decrease in the membrane resealing response after injury in skeletal muscle, which is thought to cause degeneration of the musculature over time. Dysferlin cDNA is 7.4 kb and exceeds AAV packaging capacity of ~ 5kb. This thesis focuses on the generation of mini dysferlin mutants that can be packaged in AAV for downstream test

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Alsadoon, Abdulaziz. "Clinical Prediction Rule for Treatment Change Based on Echocardiogram Findings in Transient Ischemic Attack and Non-Disabling Stroke." Thesis, Université d'Ottawa / University of Ottawa, 2015. http://hdl.handle.net/10393/32406.

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The goal of this study was to derive a clinical prediction rule for transient ischemic attack (TIA) and non-disabling stroke to predict a treatment change based on echocardiogram. Methods: We conducted a cohort sub-study for TIA and non-disabling stroke patients collected over five years from 8 Emergency Departments. We compiled a list of 27 potential predictors to look for treatment change based on echocardiogram findings. We used a univariate, logistic regression and recursive partitioning analysis to develop the final prediction model. Results: The frequency of treatment change was seen i

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Fritz, Nora Elizabeth. "Contribution of Motor and Cognitive Factors to Gait Variability and Fall Risk:From Clinical Assessment to Neural Connectivity." The Ohio State University, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=osu1373987431.

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Stangel, Martin, Ralf Gold, David Pittrow, et al. "Treatment of patients with multifocal motor neuropathy with immunoglobulins in clinical practice: the SIGNS registry." Sage, 2016. https://tud.qucosa.de/id/qucosa%3A35539.

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Objectives: The management of patients with multifocal motor neuropathy (MMN) under everyday clinical conditions has been insufficiently studied. We therefore collected comprehensive observational data on patients with MMN who received intravenous (IV) or subcutaneous (SC) immunoglobulins (IGs) as maintenance therapy. Methods: This was a prospective, noninterventional study (registry) in neurological centres (hospitals and offices) throughout Germany. Results: As of 1 December 2015, 80 patients with MMN were included (mean age 55.4 ± 9.8 years, 67% males, mean disease duration 10.7 ± 10.2 yea

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Nord, Maria. "Levodopa pharmacokinetics -from stomach to brain : A study on patients with Parkinson’s disease." Doctoral thesis, Linköpings universitet, Avdelning för neurobiologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-136560.

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Parkinson’s disease (PD) is one of the most common neurodegenerative disorders and it is caused by a loss of dopamine (DA) producing neurons in the basal ganglia in the brain. The PD patient suffers from motor symptoms such as tremor, bradykinesia and rigidity and treatment with levodopa (LD), the precursor of DA, has positive effects on these symptoms. Several factors affect the availability of orally given LD. Gastric emptying (GE) is one factor and it has been shown to be delayed in PD patients resulting in impaired levodopa uptake. Different enzymes metabolize LD on its way from the gut to

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Petrovic, Aleksandar. "Connectivity driven registration of magnetic resonance images of the human brain." Thesis, University of Oxford, 2010. http://ora.ox.ac.uk/objects/uuid:fd95c6d4-06d2-41b4-b6f2-5cbd73cb83a9.

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Image registration methods underpin many analysis techniques in neuroimaging. They are essential in group studies when images of different individuals or different modalities need to be brought into a common reference frame. This thesis explores the potential of brain connectivity- driven alignment and develops surface registration techniques for magnetic resonance imaging (MRI), which is a noninvasive neuroimaging tool for probing function and structure of the human brain. The first part of this work develops a novel surface registration framework, based on free mesh deformations, which align

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Caon, Giane. "Acompanhamento neuropsicomotor ambulatorial de crianças de alto risco neurológico." Universidade do Estado de Santa Catarina, 2005. http://tede.udesc.br/handle/handle/339.

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Made available in DSpace on 2016-12-06T17:07:08Z (GMT). No. of bitstreams: 1 02-Elementos Pre-textuais.pdf: 141371 bytes, checksum: 53522240ad7745d208315c98271c3a5a (MD5) Previous issue date: 2005-12-20<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior<br>Neuropsychomotor impairment prevention becomes essential when progresses in obstetrics and neonatology áreas promote larger survival of risk babies. Neonatology High Risk Clinics have been implemented to provide attendance for these children, that usually have prevalence of neurological risk factors. Promoting the attention for

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Osama, Mohammad. "Function of Vascular Endothelial Cells in Aging and Hypothermia: Clinical Implications." Ohio University / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1534939514503588.

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Gilleron, Mylène. "Complexité des maladies mitochondriales : à partir de deux exemples." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066136/document.

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Les maladies mitochondriales représentent un ensemble très divers de pathologies. Au cours de ce travail, j’ai abordé leur complexité dans deux situations différentes : les déficits humains en complexe III de la chaîne respiratoire mitochondriale et l’analyse des relations génotype/phénotype dans une cohorte de patients suspects de mutations sur un même gène nucléaire (POLG). Le complexe III joue un rôle central au sein de la chaîne respiratoire mitochondriale. Contrairement à sa caractérisation biochimique très complète, son rôle physiologique a été relativement mal établi. D'une cohorte de 2

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Cannemi, Vincenzo. "Valutazione dello strato delle fibre nervose del nervo ottico in pazienti con Sclerosi Multipla variante CIS." Thesis, Università degli Studi di Catania, 2011. http://hdl.handle.net/10761/161.

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SCOPO: VALUTARE LO SPESSORE DELLO STRATO DELLE FIBRE NERVOSE DEL NERVO OTTICO IN PAZIENTI CON SCLEROSI MULTIPLA VARIANTE CIS ED IN UN GRUPPO CONTROLLO DI PAZIENTI SANI MEDIANTE OCT E GDXPRO E DI VALUTARE LA CORRELAZIONE TRA LE MISURAZIONI EFFETTUATE CON LE DUE METODICHE. MATERIALI E METODI: 36 PAZIENTI (72 OCCHI) CON DIAGNOSI DI SCLEROSI MULTIPLA VARIANTE CIS, IL GRUPPO CONTROLLO Ã STATO DI 26 PAZIENTI (52 OCCHI), COMPARABILI PER ETÃ E SESSO AL GRUPPO IN STUDIO; I PAZIENTI SONO STATI SOTTOPOSTI ALLA MISURAZIONE DELLO SPESSORE DELLO STRATO DELLE FIBRE NERVOSE IN ENTRAMBI GLI OCCHI MEDIAN

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Klee, Victoria H. "An Exploration of Genetic Counselors’ Practice Patterns Towards Alzheimer’s Disease in Non-Neurology Clinics." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1586969389732165.

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Welleford, Andrew. "Autologous Peripheral Nerve Grafts to the Brain for the Treatment of Parkinson's Disease." UKnowledge, 2019. https://uknowledge.uky.edu/neurobio_etds/23.

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Parkinson’s disease (PD) is a disorder of the nervous system that causes problems with movement (motor symptoms) as well as other problems such as mood disorders, cognitive changes, sleep disorders, constipation, pain, and other non-motor symptoms. The severity of PD symptoms worsens over time as the disease progresses, and while there are treatments for the motor and some non-motor symptoms there is no known cure for PD. Thus there is a high demand for therapies to slow the progressive neurodegeneration observed in PD. Two clinical trials at the University of Kentucky College of Medicine (NCT

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Piano, Carla <1981&gt. "Sleep and Huntington Disease: Polysomnographic Findings and Clinical Correlates." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7298/1/piano_carla_tesi.pdf.

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Huntington’s disease (HD) is a progressive, fatal, neurodegenerative disorder caused by an abnormal expansion of a CAG repeat sequence in the gene encoding the protein huntingtin (HTT) on chromosome 4. Clinical features of HD include progressive motor dysfunction, cognitive decline, and psychiatric disturbance. Sleep disturbances are frequent in HD patients. However, sleep alterations as well as their association with other symptoms and signs of the disease have not been systematically studied in large groups of HD patients.The aim of the study was to objectively evaluate sleep features in a l

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Piano, Carla <1981&gt. "Sleep and Huntington Disease: Polysomnographic Findings and Clinical Correlates." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7298/.

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Huntington’s disease (HD) is a progressive, fatal, neurodegenerative disorder caused by an abnormal expansion of a CAG repeat sequence in the gene encoding the protein huntingtin (HTT) on chromosome 4. Clinical features of HD include progressive motor dysfunction, cognitive decline, and psychiatric disturbance. Sleep disturbances are frequent in HD patients. However, sleep alterations as well as their association with other symptoms and signs of the disease have not been systematically studied in large groups of HD patients.The aim of the study was to objectively evaluate sleep features in a l

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Carvour, Martha Lydia. "Patterns and predictors of survival following an HIV/AIDS-related neurologic diagnosis." Diss., University of Iowa, 2012. https://ir.uiowa.edu/etd/2454.

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Infection with human immunodeficiency virus (HIV) and progression to acquired immune deficiency syndrome (AIDS) often result in neurologic and neuropsychiatric changes, although the prognostic information available for patients affected by HIV/AIDS-related neurologic diagnoses has been limited. The objective of the present study was to characterize the patterns and predictors of survival, including the impacts of antiretroviral therapy (ART) use and potential factors in healthcare access and disparity, among patients with

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Peall, Kathryn J. "Clinical and genetic investigation of the epsilon-sarcoglycan complex in neurologic and psychiatric disease." Thesis, Cardiff University, 2012. http://orca.cf.ac.uk/44844/.

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Myoclonus Dystonia Syndrome is a childhood onset hyperkinetic movement disorder characterised by alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene, which encodes the transmembrane epsilon-sarcoglycan protein. Previous studies suggest an increased rate of psychiatric disorders in those with SGCE mutations. This study aimed to establish a cohort of myoclonus dystonia syndrome patients, identify the rate and type of SGCE mutations, determine differences in motor characteristics between mutation positive and negat

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AVENALI, MICOL. "CLINICAL AND BIOCHEMICAL SIGNATURES OF GBA-RELATED PARKINSON DISEASE." Doctoral thesis, Università degli studi di Pavia, 2021. http://hdl.handle.net/11571/1446315.

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Background: Parkinson’s disease (PD) is a common neurodegenerative disorder mainly characterized by dopaminergic neuronal loss in the substantia nigra and α-synuclein protein aggregation. Genetic factors are well known to contribute to PD susceptibility. Mutations in the glucocerebrosidase (GBA) gene are the commonest genetic risk factor for PD and also impact on disease development and progression. A better clinical and genetic classification of patients, as well as the identification of clinical and biochemical markers are therefore of utmost importance for multifold reasons: - to improve th

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Silva, David Willians. "Estudo das caracteristicas demograficas e clinicas da demencia no ambulatorio de neurologia do Hospital de Clinicas da UNICAMP." [s.n.], 2001. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308463.

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Orientador: Benito Pereira Damasceno<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-07-27T10:48:01Z (GMT). No. of bitstreams: 1 Silva_DavidWillians_M.pdf: 24861758 bytes, checksum: 4814eebfbdbf1dc6d42002636139858d (MD5) Previous issue date: 2001<br>Resumo: No Brasil, a população de idosos exibe grande crescimento proporcional. Demência assume crescente importância neste grupo etário (4 a 18% para aqueles com mais de 65 anos e até 25% para aqueles com mais de 85 anos). Seu diagnóstico apresenta desafios: não exi

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Gillespie, Stephanie Marie 1958. "Reliability and validity of the Clinical Neurologic Assessment (CNA) Tool in children with head trauma." Thesis, The University of Arizona, 1990. http://hdl.handle.net/10150/278494.

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The Clinical Neurologic Assessment (CNA) Tool is a 21 item instrument designed to assess subtle neurologic changes that often accompany head trauma. This descriptive study was designed to test the reliability and validity of the CNA in children with head trauma. Interrater reliability of the CNA was assessed by determining Cohen's Kappa values for each item. Kappa values ranged from .74 to 1.00. Internal consistency of the CNA was assessed using Cronbach's alpha. The total CNA alpha was estimated to be .98 with subscale alphas ranging from .89 to .96. Concurrent and construct validity of the C

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Menassa, David Antoine. "Magnetoencephalography and neuropathological studies of autism spectrum disorders and the comorbidity with epilepsy." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:e809ac19-1f3c-4ef9-83db-69950ab65994.

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Autism spectrum disorders (ASD) are neurodevelopmental disorders with multiple neurobiological aetiologies, which could be genetic, structural, metabolic or immune-mediated. ASDs are diagnosed with deficits in social communication and restricted and repetitive behaviours, and are associated with sensorial atypicalities. 30% of cases have co-existing epilepsy. A series of in vitro, in vivo and post-mortem investigations were undertaken to examine sensory atypicalities in ASD. In vitro characterisation of hippocampal neuronal cultures using immunofluorescence demonstrated the presence of multipl

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Goi, Pedro Domingues. "Evidências clinicas para o modelo de neuroprogressão no transtorno bipolar." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2014. 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 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 evid

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