Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypesDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyCell 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.Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).Iron homeostasis in peripheral nervous system, still a black box?Genetic spectrum of hereditary neuropathies with onset in the first year of lifeThe mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanMitochondrial dynamics in diabetes.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyGanglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Inherited peripheral neuropathies.Charcot-Marie-Tooth disease: a clinico-genetic confrontation.Charcot-marie-tooth disease: seventeen causative genes.The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.Peripheral neuropathy associated with mitochondrial disease in children.Demyelinating prenatal and infantile developmental neuropathies.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Charcot-Marie-Tooth disease and pathways to molecular based therapies.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 geneA novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.A Sibling Pair with Autosomal Recessive Charcot-Marie-Tooth Disease Due to Novel Ganglioside-induced Differentiation-associated Protein 1 Mutation.MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
P2860
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P2860
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
description
2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@ast
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@en
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@nl
type
label
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@ast
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@en
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@nl
prefLabel
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@ast
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@en
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@nl
P2093
P1433
P1476
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
@en
P2093
A A W M Gabreëls-Festen
C Ceuterick
C Van Broeckhoven
C Verellen
H Topaloglu
M-C Belpaire-Dethiou
P304
P356
10.1212/01.WNL.0000036272.36047.54
P407
P577
2002-12-24T00:00:00Z