GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
about
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
P2860
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@ast
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@en
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@nl
type
label
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@ast
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@en
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@nl
prefLabel
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@ast
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@en
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@nl
P2093
P50
P1433
P1476
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
@en
P2093
Angelo Schenone
Carlo Minetti
Denise Cassandrini
Emilia Bellone
Pasquale Striano
Roberta Biancheri
Silvia Stringara
P2888
P304
P356
10.1007/S00415-006-0149-4
P407
P577
2006-04-10T00:00:00Z
P6179
1018533364