The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
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Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human DiseaseC9orf72 expansions are the most common genetic cause of Huntington disease phenocopiesGenotype-phenotype correlations of amyotrophic lateral sclerosisParkinsonian syndrome in familial frontotemporal dementiaFrontotemporal dementia: a bridge between dementia and neuromuscular diseaseC9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesA meta-analysis of observational studies of the association between chronic occupational exposure to lead and amyotrophic lateral sclerosisSearching for a link between the L-BMAA neurotoxin and amyotrophic lateral sclerosis: a study protocol of the French BMAALS programmeSearching for Grendel: origin and global spread of the C9ORF72 repeat expansionALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.Establishing the UK DNA Bank for motor neuron disease (MND).Lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disordersAn inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb.The epidemiology of ALS: a conspiracy of genes, environment and time.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsAntisense therapy in neurologyGenetic architecture of ALS in SardiniaLack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.A network of RNA and protein interactions in Fronto Temporal Dementia.Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degenerationEmerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.Anti-sense DNA d(GGCCCC)n expansions in C9ORF72 form i-motifs and protonated hairpins.Dystrophic neurites express C9orf72 in Alzheimer's disease brains.Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTDMaturation and electrophysiological properties of human pluripotent stem cell-derived oligodendrocytesC9ORF72 expansion in a family with bipolar disorderThe Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeatGene expression profiles and protein-protein interaction networks in amyotrophic lateral sclerosis patients with C9orf72 mutationIdentifying proteins that bind to specific RNAs - focus on simple repeat expansion diseases.Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxicSequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions.How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
@zh-hant
name
The C9ORF72 expansion mutation ...... rope and has a single founder.
@ast
The C9ORF72 expansion mutation ...... rope and has a single founder.
@en
type
label
The C9ORF72 expansion mutation ...... rope and has a single founder.
@ast
The C9ORF72 expansion mutation ...... rope and has a single founder.
@en
prefLabel
The C9ORF72 expansion mutation ...... rope and has a single founder.
@ast
The C9ORF72 expansion mutation ...... rope and has a single founder.
@en
P2093
P2860
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P1476
The C9ORF72 expansion mutation ...... rope and has a single founder.
@en
P2093
Alex Morris
Anneloor Alm Ten Asbroek
Ashley Jones
Boris Rogelj
Franco Taroni
Hardev Pall
Helenius J Schelhaas
J M B Vianney de Jong
Jack Miller
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P2888
P304
P356
10.1038/EJHG.2012.98
P50
P577
2012-06-13T00:00:00Z