A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
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Frontotemporal dementia: a bridge between dementia and neuromuscular diseaseIs survival improved by the use of NIV and PEG in amyotrophic lateral sclerosis (ALS)? A post-mortem study of 80 ALS patients.Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.RNA Structures as Mediators of Neurological Diseases and as Drug Targets.Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS PatientsG4-associated human diseases.Intermediate C9orf72 alleles in neurological disorders: does size really matter?Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.ALS: Recent Developments from Genetics Studies.Presymptomatic ALS genetic counseling and testing: Experience and recommendations.Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.Biomarkers in Neurodegenerative Diseases.Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance.Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.Detection of long repeat expansions from PCR-free whole-genome sequence data.Young-onset rapidly progressive ALS associated with heterozygous FUS mutation.Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.The evolving genetic risk for sporadic ALS.Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls.A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in SwedenValidation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions
P2860
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P2860
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
description
2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A blinded international study ...... results among 14 laboratories.
@ast
A blinded international study ...... results among 14 laboratories.
@en
type
label
A blinded international study ...... results among 14 laboratories.
@ast
A blinded international study ...... results among 14 laboratories.
@en
prefLabel
A blinded international study ...... results among 14 laboratories.
@ast
A blinded international study ...... results among 14 laboratories.
@en
P2093
P2860
P50
P1476
A blinded international study ...... results among 14 laboratories.
@en
P2093
Aaron D Gitler
Alessandra Chesi
Alexander E Volk
Angelica Nordin
Anjali Lloyd-Jani
Anna Birve
Antonia Ratti
Birgit Neitzel
Chizuru Akimoto
Claire S Leblond
P2860
P304
P356
10.1136/JMEDGENET-2014-102360
P407
P50
P577
2014-04-04T00:00:00Z