Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
about
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
Q28854289-BF812F79-FA90-4C4B-942B-4CCA4300925AQ30009313-95958BCB-BEBD-408B-9957-F0085B6AF24AQ35856535-BA9C87B8-8DD6-4147-9827-C6977E8935F0Q36320982-2D552BF2-1518-42F7-93F1-C672FC915727Q36507147-8C4124CB-87A8-4F4F-B713-C952935DA699Q36507152-53AF0C3B-50DF-484F-8206-22EDF4BF0742Q36507157-7DCA73F9-24E8-4E42-98D9-C0781D8712D5Q36753688-9AD4D686-9703-4BBB-96EB-004E38DC1450Q39132433-A17FEB80-80AC-47B4-A649-85B27F2156E0
P2860
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
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
P2093
P1476
Variability of disease progres ...... 10Q mutation in the GDAP1 gene
@en
P2093
B Wechsler
C Gilardeau
H Azzedine
P356
10.1016/S096089660200281X
P407
P50
P577
2003-05-01T00:00:00Z