Amylin single-nucleotide polymorphism and Parkinson’s disease
Objective: The objective of this study was to evaluate if a single nucleotide polymorphism (SNP) in the amylin sequence is present in patients with Parkinson’s…Investigation of the Effects of Propranolol on DRD3, SLC1A2 and HTRA2 Gene Expression in Patients with Essential Tremor
Objective: The aim of this study investigation of the effects of gene expressions before and after propranolol treatment. Background: Essential tremor (ET) is the most…Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Tremor and parkinsonism in Chromosomopathies – a systematic review
Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders. Background: The landscape of genetic forms of Parkinson’s diseases (PD)…LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…Intronic pentanucleotide TTTCA repeat insertion in SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the causative mutation in pedigrees with familial cortical myoclonic tremor with epilepsy (FCMTE) type 1. Background: FCMTE is an autosomal dominant neurodegenerative…Contribution of the French registry in the understanding of Wilson disease
Objective: To describe patients from the French Wilson disease (WD) registry. Background: WD is a rare genetic disorder caused by loss of function of the…Antisense FMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
Objective: To determine the role of a splice variant of the antisense fragile X mental retardation 1 (ASFMR1) gene, loss of FMR1 AGG interspersions and…Genome-wide association study identifies common genetic variants associated with cervical dystonia
Objective: We aim to identify genetic variants of cervical dystonia (CD) in a large cohort of patients using a genome-wide association study (GWAS) approach. Background:…Genetic Markers of Essential Tremor in Restless Legs Syndrome/Willis-Ekbom Disease in Southern Chinese Population
Objective: The aim of this study was to investigate the relationship between genetic markers of essential tremor and primary restless legs syndrome/Willis-Ekbom Disease (RLS/WED) in…
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