C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
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C9orf72 repeat expansions are a rare genetic cause of parkinsonismFrontotemporal dementia: a bridge between dementia and neuromuscular diseaseAmyotrophic Lateral Sclerosis Survival Score (ALS-SS): A simple scoring system for early prediction of patient survival.ALS Multicenter Cohort Study of Oxidative Stress (ALS COSMOS): study methodology, recruitment, and baseline demographic and disease characteristics.Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Amyotrophic lateral sclerosis in Piedmont (Italy): a Bayesian spatial analysis of the incident cases.Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.Extensive genetics of ALS: a population-based study in Italy.Advances in understanding the molecular basis of frontotemporal dementia.The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.Diabetes Mellitus, Obesity, and Diagnosis of Amyotrophic Lateral Sclerosis: A Population-Based Study.C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.Proteome analysis of body fluids for amyotrophic lateral sclerosis biomarker discovery.How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.Comparative analysis of C9orf72 and sporadic disease in an ALS clinic populationPhenotypic variability related to C9orf72 mutation in a large Sardinian kindred.Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.Serum C-Reactive Protein as a Prognostic Biomarker in Amyotrophic Lateral Sclerosis.Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
P2860
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P2860
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
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
@zh
2012年學術文章
@zh-hant
name
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
@ast
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
@en
type
label
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
@ast
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
@en
prefLabel
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
@ast
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
@en
P2093
P2860
P50
P1476
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
@en
P2093
Amelia Conte
Antonio Gambardella
Bryan J Traynor
Elisa Majounie
Fabio Giannini
Fabrizio Pisano
Fabrizio Salvi
Francesca Luisa Conforti
Francesco Marrosu
Gioacchino Tedeschi
P2860
P304
1848.e15-20
P356
10.1016/J.NEUROBIOLAGING.2012.02.011
P50
P577
2012-03-13T00:00:00Z