Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic
Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…Phenotypic Variability of PRNP and Related Movement Disorders
Objective: Delineation of clinical and genetic features of PRNP-related movement disorders in two families. Background: Genetic prion disease can have a variable and overlapping phenotypic presentation…Rare Variant Burden is Increased in Sporadic Late-onset Chinese Parkinson’s Disease Patients
Objective: We aim to study the rare variant burden in a panel of 29 Parkinson’s disease (PD) candidate genes (Table 1) in a cohort of…Exploring MAPT Haplotypes in Parkinson’s Disease in a Diverse Cohort: Insights from the Global Parkinson’s Genetics Program
Objective: To assess the frequency of H1/H2 haplotypes in MAPT across diverse ancestries from the Global Parkinson’s Genetics Program(GP2) and investigate their association with Parkinson's…Engagement of the Black and African American Community in Parkinson’s Genetic Research
Objective: Increase racial diversity in Parkinson’s disease (PD) genetic research by engaging Black and African American people living with PD Background: Advancements in understanding the…Clinical and genetic characteristics of PLA2G6-parkinsonism in southwest of China and a review of heterogeneity of phenotype and genotype between Asian and Caucasian patients
Objective: Objective: To summarize clinical characteristics, imaging features and genetic data of PLA2G6 mutant patients in southwest of China, and to investigate the heterogeneity between Asian and…Clinical Features of dj1 Gene Mutation Causing Parkinson’s Disease from Single Institution
Objective: Describe a detailed clinical and genetic evaluation of patients with Parkinson's disease secondary to DJ1 gene mutation Background: Inherited Parkinson's disease (PD) represents 5-10%…Wilson’s Disease : A Senegalese Series of Seven Patients Followed at Pikine National Hospital Centre (Dakar-Senegal)
Objective: The aim of this study is to describe the epidemiological, diagnostic, therapeutic and evolutionary characteristics of Wilson's disease and to highlight the diagnostic and…Prevalence of immune-mediated diseases in long-term chelator therapy in Wilson’s Disease
Objective: To determine the prevalence of concurrent immune-mediated diseases during copper chelation therapy in Wilson’s disease (WD). Background: Wilson’s disease is a neurometabolic autosomal recessive…Adult-onset Niemann-Pick C in India: phenotype and genotype
Objective: This study was aimed to describe the clinical, radiological, and molecular profile of adults affected by NPC. Background: Adult-onset Niemann-Pick C (NPC) is a…
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