Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
about
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyA locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.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
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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name
Novel mutations in the GDAP1 g ...... l Charcot-Marie-Tooth type 4A.
@en
Novel mutations in the GDAP1 g ...... l Charcot-Marie-Tooth type 4A.
@nl
type
label
Novel mutations in the GDAP1 g ...... l Charcot-Marie-Tooth type 4A.
@en
Novel mutations in the GDAP1 g ...... l Charcot-Marie-Tooth type 4A.
@nl
prefLabel
Novel mutations in the GDAP1 g ...... l Charcot-Marie-Tooth type 4A.
@en
Novel mutations in the GDAP1 g ...... l Charcot-Marie-Tooth type 4A.
@nl
P2093
P50
P1476
Novel mutations in the GDAP1 g ...... l Charcot-Marie-Tooth type 4A.
@en
P2093
Davide Pareyson
Emanuela Pagliano
Franco Taroni
Marianna Bugiani
Micaela Milani
Tiziana Cavallaro
P304
P356
10.1016/J.NMD.2009.04.014
P577
2009-06-04T00:00:00Z