Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
about
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafishRecessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1Genetic determinants of fibro-osseous lesions in aged inbred mice.Genetic and phenotypic characterization of complex hereditary spastic paraplegiaGenetic heterogeneity of motor neuropathiesThe practical use of genome sequencing data in the management of a feline colony pedigree.Helicases and human diseases.Clinical diversity caused by novel IGHMBP2 variants.A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Exome sequencing uncovers hidden pathways in familial and sporadic ALS.UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
P2860
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P2860
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
description
2014 nî lūn-bûn
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2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
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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
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@ast
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@en
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@nl
type
label
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@ast
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@en
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@nl
prefLabel
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@ast
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@en
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@nl
P2093
P2860
P50
P1476
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
@en
P2093
Albena Jordanova
Andre Franke
Boglarka Bansagi
Byung-Ok Choi
Dagmara Kabzińska
Davide Pareyson
Ellen Cottenie
Haiwei Song
Henry Houlden
Irena Hausmanowa-Petrusewicz
P2860
P304
P356
10.1016/J.AJHG.2014.10.002
P407
P50
P577
2014-10-30T00:00:00Z