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The role of FUS gene variants in neurodegenerative diseases
TLDR
Current understanding of the normal function of FUS is summarized, its role in the pathology of ALS, FTLD, essential tremor and other neurodegenerative diseases is described, and comments on the underlying pathogenetic mechanisms are included. Expand
Association of genetic variation in FTO with risk of obesity and type 2 diabetes with data from 96,551 East and South Asians
TLDR
FTO is associated with increased risk of obesity and type 2 diabetes, with effect sizes similar in East and South Asians and similar to those observed in Europeans. Expand
Identification of TMEM230 mutations in familial Parkinson’s disease
TLDR
This work reports a locus for autosomal dominant, clinically typical and Lewy body–confirmed Parkinson's disease on the short arm of chromosome 20 (20pter-p12) and identifies TMEM230 as the disease-causing gene and shows that it encodes a transmembrane protein of secretory/recycling vesicles, including synaptic vesicle trafficking in neurons. Expand
The VPS35 gene and Parkinson's disease
TLDR
The VPS35 gene, its protein function, and various pathways involved in Wnt/β‐catenin signaling and in the role of DMT1 mediating the uptake of iron and iron translocation from endosomes to the cytoplasm are discussed. Expand
Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation
TLDR
It is clear that the FMR1 premutation is not a major cause of late-onset ataxia in female subjects but should be excluded especially when additional FXTAS symptoms are present, and it is proposed to include FMR 1 analysis in the molecular diagnostic workup in the group of older male atAXia patients. Expand
The genetics of Parkinson disease
TLDR
This work provides a comprehensive and critical overview of the current clinical, neuropathological, and genetic understanding of genetic forms of Parkinson disease and discusses advances in screening for genetic PD-related risk factors. Expand
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.
TLDR
The association of the Gly-9 variant in the dopamine D(3) receptor gene (DRD3) is associated and cosegregates with familial ET in 23 out of 30 French families and suggests that DRD3 partial agonists or antagonists should be considered as novel therapeutic options for patients with ET. Expand
Decreased NURR1 gene expression in patients with Parkinson's disease
TLDR
Lower levels of NURR1 gene expression were associated with significantly increased risk for PD in women, in patients 60 years old or older, and in patients of Caucasian origin and the finding may help identify individuals with PD and other disorders associated with impaired central DAergic system. Expand
Genetic analysis of LRRK2 mutations in patients with Parkinson disease
TLDR
The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset, which may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling. Expand
HLA rs3129882 variant in Chinese Han patients with late-onset sporadic Parkinson disease
TLDR
Findings suggest that the rs3129882 variant in intron 1 of HLA-DRA is associated with late-onset sporadic Parkinson disease in Chinese Han population, and significant difference in genotypic and allele distribution between patients and control subjects is found. Expand
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