The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsDominant GDAP1 mutations cause predominantly mild CMT phenotypesMutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucomaDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyGARS axonopathy: not every neuron's cup of tRNAMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HCharcot-Marie-Tooth disease and intracellular trafficDeficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.Mitochondrial fragmentation in neurodegenerationMitochondrial morphology in metabolic diseasesLocal regulation of fat metabolism in peripheral nerves.Lack 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 diseaseShortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.Iron homeostasis in peripheral nervous system, still a black box?SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseRapid evolution and copy number variation of primate RHOXF2, an X-linked homeobox gene involved in male reproduction and possibly brain functionThe mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanDistal spinal and bulbar muscular atrophy caused by dynactin mutation.Mitochondrial dynamics in diabetes.Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cellsA novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyAutosomal-recessive Charcot-Marie-Tooth diseases.Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant axonal 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.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutationsAxon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.
P2860
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P2860
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին 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
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@ast
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@en
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@nl
type
label
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@ast
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@en
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@nl
prefLabel
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@ast
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@en
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@nl
P2093
P50
P3181
P356
P1433
P1476
The gene encoding ganglioside- ...... ot-Marie-Tooth type 4A disease
@en
P2093
Ana Cuesta
Eric LeGuern
Fernando Mayordomo
Ignacio Marín
María José Chumillas
Teresa Sevilla
P2888
P3181
P356
10.1038/NG798
P407
P577
2002-01-01T00:00:00Z