Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
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C9orf72 repeat expansions are a rare genetic cause of parkinsonismGenotype-phenotype correlations of amyotrophic lateral sclerosisG-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptomeDNA Replication Dynamics of the GGGGCC Repeat of the C9orf72 Gene.Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD.Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.C9orf72 nucleotide repeat structures initiate molecular cascades of disease.Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegenerationThe 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 neurologyLack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.G-quadruplex structures contribute to the neuroprotective effects of angiogenin-induced tRNA fragments.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death.Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndromeSolution structure of a DNA quadruplex containing ALS and FTD related GGGGCC repeat stabilized by 8-bromodeoxyguanosine substitutionThe Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the ProteasomeC9ORF72 mutations in neurodegenerative diseases.Intermediate C9orf72 alleles in neurological disorders: does size really matter?Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients.R Loops and Links to Human Disease.C9orf72 expansion disrupts ATM-mediated chromosomal break repair.Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis.Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.Characterizations of distinct parallel and antiparallel G-quadruplexes formed by two-repeat ALS and FTD related GGGGCC sequence.
P2860
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P2860
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
@ast
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
@en
type
label
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
@ast
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
@en
prefLabel
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
@ast
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
@en
P2093
P2860
P50
P1476
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
@en
P2093
Alexandra I Soto-Ortolaza
Andrew Kertesz
Bradley F Boeve
Carol Lippa
Eileen H Bigio
Hans A Kretzschmar
Heather Stewart
Ian R Mackenzie
Kathryn Volkening
Kevin B Boylan
P2860
P304
P356
10.1016/J.NEUROBIOLAGING.2012.07.005
P50
P577
2012-07-26T00:00:00Z