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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
It is shown that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism, and these findings indicate that loss ofDJ-1 function leads to neurodegeneration.
An atlas of active enhancers across human cell types and tissues
It is shown that enhancers share properties with CpG-poor messenger RNA promoters but produce bidirectional, exosome-sensitive, relatively short unspliced RNAs, the generation of which is strongly related to enhancer activity.
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's…
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease
A meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants found four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant.
A promoter-level mammalian expression atlas
It is found that few genes are truly ‘housekeeping’, whereas many mammalian promoters are composite entities composed of several closely separated TSSs, with independent cell-type-specific expression profiles.
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
Endoglin is identified as the HHT gene mapping to 9q3 and HHT is established as the first human disease defined by a mutation in a member of the TGF-β receptor complex.
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Pathological expansions of the polyalanine tract may cause mutated PABP2 oligomers to accumulate as filament inclusions in nuclei to cause autosomal recessive OPMD.