about
Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Dominantly inherited peripheral neuropathies.Demyelinating prenatal and infantile developmental neuropathies.PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.Clinico-pathologic conference: congenital hypomyelinating neuropathy in two infants of a triplet birth.Genetic epidemiology of Charcot-Marie-Tooth disease.
P2860
Q34713816-B0C22795-D0D9-47B8-BFB1-58988498F0A5Q35193592-04816BA4-8584-4B78-9329-A02915BCB757Q37998518-3EBA22DC-703E-43CE-A465-45E50493E7FBQ42293062-E30309A6-19C1-4320-928D-8FA0C62B3F54Q44727562-C5C49E60-B09F-4B90-B339-E03238FE1D74Q47926180-03465BEE-3EB0-4A61-B779-76F20BFF472EQ52631187-2FF9F87C-BC0A-4D12-966A-24F54452A7C5
P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
PMP22 related congenital hypomyelination neuropathy
@ast
PMP22 related congenital hypomyelination neuropathy
@en
PMP22 related congenital hypomyelination neuropathy
@nl
type
label
PMP22 related congenital hypomyelination neuropathy
@ast
PMP22 related congenital hypomyelination neuropathy
@en
PMP22 related congenital hypomyelination neuropathy
@nl
prefLabel
PMP22 related congenital hypomyelination neuropathy
@ast
PMP22 related congenital hypomyelination neuropathy
@en
PMP22 related congenital hypomyelination neuropathy
@nl
P2093
P356
P1476
PMP22 related congenital hypomyelination neuropathy
@en
P2093
A Simonati
F Rigatelli
G M Fabrizi
M Ferrarini
M L Mostacciuolo
T Cavallaro
P304
P356
10.1136/JNNP.70.1.123
P407
P577
2001-01-01T00:00:00Z