A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
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State of play in amyotrophic lateral sclerosis geneticsFUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosisMutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALSTargeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneuronsCRESTing the ALS mountainGenome-wide analysis of the heritability of amyotrophic lateral sclerosis.Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia.ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granulesExome sequencing to identify de novo mutations in sporadic ALS triosClinical neurogenetics: amyotrophic lateral sclerosis.A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.Genetic counselling in ALS: facts, uncertainties and clinical suggestions.The role of FUS gene variants in neurodegenerative diseases.Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing.ALS: Recent Developments from Genetics Studies.Evidence for an oligogenic basis of amyotrophic lateral sclerosis.Abundant FUS-immunoreactive pathology in the skin of sporadic amyotrophic lateral sclerosis.R521C and R521H mutations in FUS result in weak binding with Karyopherinβ2 leading to Amyotrophic lateral sclerosis: a molecular docking and dynamics study.Familial Amyotrophic Lateral Sclerosis.The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington's disease patients
P2860
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P2860
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@ast
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@en
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@nl
type
label
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@ast
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@en
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@nl
prefLabel
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@ast
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@en
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@nl
P2093
P2860
P50
P1476
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
@en
P2093
Andrea Calvo
Bryan J Traynor
Irene Ossola
Luca Sbaiz
Shiao-lin Lai
Yevgeniya Abramzon
P2860
P304
P356
10.1016/J.NEUROBIOLAGING.2010.05.016
P577
2010-07-03T00:00:00Z