Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
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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.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 NeuropathyGanglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.Inherited peripheral neuropathies.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyIntermediate Charcot-Marie-Tooth disease.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
P2860
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P2860
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003 թվականի մարտին հրատարակված գիտական հոդված
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2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@ast
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@en
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@nl
type
label
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@ast
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@en
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@nl
prefLabel
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@ast
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@en
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@nl
P2093
P50
P1433
P1476
Mutations in the ganglioside-i ...... Charcot-Marie-Tooth neuropathy
@en
P2093
Astrid Makowski
Carsten Bergmann
Günther Bernert
J Michael Schröder
Vincent T Ramaekers
P407
P577
2003-03-01T00:00:00Z