A UK-wide Effort for Identification of Loci for Autosomal Dominant Parkinson’s Disease
Objective: (i) To describe the demographic, clinical and genetic features of a large cohort of familial autosomal dominant Parkinson’s disease (PD) patients in the UK.(ii)…Genetic Architecture Of Movement Disorder And Its Association With Consanguinity In Pashtoon Population
Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like…Genetic Analysis of UK Kindreds with Familial Tremor in The Global Parkinson’s Genetics Progam (GP2)
Objective: To gain a better understanding of the genetic basis of familial tremor syndromes. Background: The genetic basis of tremor is poorly understood and familial…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…Clinical and genetic profile of fifteen patients with PARK-PRKN: A largest single-center cohort from India.
Objective: To study the clinico-genetic profile of patients with genetically proven parkinsonism secondary to biallelic variants in PRKN gene (PARK-PRKN). Background: PARK-PRKN is the most…Tremors and More: A Case Report of TBK1 Mutation and Electrophysiological Assessment
Objective: TBK1 mutations have been associated with a range of neurological disorders, but their association with tremor is not well-documented. Here, we present a case…Transcriptome-microRNA correlation and the regulation of targeted gene expression in de novo Parkinson’s disease patients.
Objective: To conduct a case-control study in single, comprehensive movement disorder center in Seoul. Background: Parkinson’s disease (PD) is the second most common neurodegenerative disease…Identification of two novel patients with VPS13D-related disease and characterization of a +3 splice site variant
Objective: To identify the underlying genetic cause of a childhood-onset spasticity-ataxia-tremor syndrome in a 31-year-old woman. Background: Biallelic variants in VPS13D have been linked to…Tremor genetics in clinical practice: a systematic literature review
Objective: Within the Movement Disorder Society the Task Force on Genetic Nomenclature has developed several gene panels for different movement disorders to give guidance to…A new mutation in the C-terminal domain of the YY1 gene associated with Gabriele-de Vries syndrome.
Objective: To report a new mutation in the YY1 gene in a patient with Gabriele-de Vries syndrome, in which dystonia and choreoathetosis were the most…
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