Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

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http://www.wikidata.org/entity/Q28187910
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature
P2860

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

Item
http://www.wikidata.org/entity/Q28187910
description
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
article
@en
artículu científicu espublizáu en 2003
@ast
im Mai 2003 veröffentlichter wissenschaftlicher Artikel
@de
vedecký článok (publikovaný 2003-05)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd in 2003-05)
@nl
наукова стаття, опублікована в травні 2003
@uk
مقالة علمية (نشرت في مايو 2003)
@ar
name
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@ast
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@en
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@nl
type
label
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@ast
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@en
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@nl
prefLabel
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@ast
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@en
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698