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…RAB32 c.213C>G (p.Ser71Arg) explains Parkinson’s disease in two UK families: description of the clinical and biochemical features
Objective: To describe the clinical features, family structure of two families identified to have the recently described pathogenic variant RAB32 c.213C>G (p.Ser71Arg). Background: Genetic mutations…Utility of using long-read whole genome sequencing to solve exome negative early-onset and familial Parkinson’s disease: a series of 106 individuals
Objective: (i) To identify complex variants usually not visible by short-read whole exome sequencing in known genes of Parkinson’s disease (PD) such as structural variants…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…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)…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…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…
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