Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
about
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous systemSh3tc2 deficiency affects neuregulin-1/ErbB signalingUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Demyelinating prenatal and infantile developmental neuropathies.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Charcot-Marie-Tooth disease type 4C in Japan: report of a case.Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
P2860
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P2860
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
@en
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
@nl
type
label
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
@en
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
@nl
prefLabel
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
@en
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
@nl
P2093
P50
P1476
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
@en
P2093
Isabelle Gosselin
Isabelle Thiffault
Jack Puymirat
Lina Loisel
Marie-Josée Dicaire
Martine Tétreault
Michel Vanasse
Monique Emond
P304
P356
10.1016/J.NMD.2008.04.001
P577
2008-06-03T00:00:00Z