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)…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…Quantifying Tremor in the R6/2 Mouse model of Huntington’s Diease
Objective: To better characterize and precisely quantify the tremor widely observed in R6/2 mouse models of Huntington’s disease. Background: Tremor is a prominent feature of…Management of tremor secondary to MORC2 related neurodevelopmental disorder with deep brain stimulation
Objective: We present a case of MORC2-related neurodevelopmental disorder in a child with impairing tremor successfully managed with bilateral VIM/posterior subthalamic area deep brain stimulation…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…Neuronal intranuclear inclusion disease tremor-dominant subtype: a mimicker of essential tremor
Objective: This study aimed to clarify the clinical phenotype in tremor-dominant patients having the GGC repeat expansion in the NOTCH2NLC gene. Background: The GGC repeat…
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