The effect of uni- and bilateral thalamic deep brain stimulation on speech in patients with essential tremor: Acoustics and intelligibility
Objective: In this study, we investigate the effect of VIM-DBS on speech in ET patients. We compare how uni- vs. bilateral DBS contributes to the…Esophageal involvement in multiple system atrophy
Objective: To determine the prevalence of esophageal involvement and its impact on clinical manifestations in patients with multiple system atrophy (MSA). Background: Secondary motor disorders…Magnetic resonance imaging in spinocerebellar ataxias: A systematic review
Objective: To perform a systematic review about quantitative central nervous system (CNS) magnetic resonance imaging (MRI) techniques findings in patients with Polyglutamine expansion (PolyQ) spinocerebellar…Co-occurrence of two triplet repeat associated SCA mutations: A dilemma in clinical diagnosis, prognosis and genetic counselling and clinical significance
Objective: To report clinical and genetic outcomes of rare combinatiorial triplet repeat expansion(TRE), SCA mutations in patients. Background: The presence of more than one TRE-SCA…Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)
Objective: Describe the clinical findings of a Brazilian cohort of SCA2 patients, stratify them according the presence of sub-phenotypes: cognitive deterioration, sensory loss, amiotrophy, parkinsonism…Huntington disease phenocopies or misdiagnosis: A black South African cohort
Objective: To investigate the occurrence of phenocopy mutations in a cohort of black South African individuals referred to the National Health Laboratory Service (NHLS) for…Cognitive impairment in Huntington’s disease
Objective: The present study was done to assess cognitive impairment in HD patients using a neuropsychological battery and to correlate with clinical severity and CAG…Demographic and phenotypic comparison of Huntington’s disease in Europe and North America: Data from REGISTRY and COHORT, two prospective observational cohort studies
Objective: We tested the assumption that the demographic and clinical spectrum of Huntington's disease (HD) is fairly similar irrespective of the geographical region of origin…Clinical and behavioral features in carriers of intermediate length alleles of HTT gene. A case series of Mexican population
Objective: To describe clinical manifestations in carriers of intermediate alleles (IAs) of CAG trinucleotides in HTT gene of Mexican population. Background: Huntington's disease (HD) is…Severe striatal and pallidal atrophy in early disease stages of X-linked dystonia-parkinsonism
Objective: To investigate cortical and subcortical atrophy patterns in X-linked dystonia-parkinsonism (XDP). Background: XDP is a neurodegenerative disorder characterized by severe adult-onset dystonia followed by…
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