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…Association of GALC, ZNF184 and rs2280104 with PD in southern Chinese
Objective: The aim of the study was to investigate the relationship between 12 single nucleotide polymorphisms (SNPs) and Parkinson’s disease (PD) in Chinese population. Background:…MicroRNAs as Biomarkers for Parkinson’s Disease
Objective: To identify potential biomarkers for Parkinson’s disease by evaluating miRNA in cerebrospinal fluid samples collected from PD and healthy control subjects. Background: The diagnosis…Whole exome sequencing in essential tremor.
Objective: Objective: To discover novel gene variants associated with essential tremor (ET) using whole exome sequencing (WES). Background: Background: ET, one of the most common…Risk prediction modeling in Parkinson’s disease using genetic and environmental/lifestyle factors
Objective: To assess the potential of Parkinson's disease (PD) risk prediction using a comprehensive list of genetic and environmental/lifestyle factors associated with PD. Background: Parkinson's…Triple X syndrome: Are tremors part of its phenotype?
Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…Analysis of LINGO1 and LINGO2 genes in essential tremor and Parkinson’s disease
Objective: We studied the involvement of LINGO1 and LINGO2 in Russian patients with ET and PD. Background: Genetics of ET is unclear. Three candidate loci…
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