Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Item
http://www.wikidata.org/entity/Q30495488
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth diseaseGap junctions couple astrocytes and oligodendrocytesGap junctions in inherited human disorders of the central nervous system.Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicleTwo tyrosine-based sorting signals in the Cx43 C-terminus cooperate to mediate gap junction endocytosis.A new mutation in GJC2 associated with subclinical leukodystrophy.Episodic neurological dysfunction in hereditary peripheral neuropathyConnexins in hearing loss: a comprehensive overview.How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.A Review of X-linked Charcot-Marie-Tooth Disease.Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.Physiology of Astroglia.Genetic epidemiology of Charcot-Marie-Tooth disease.X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
P2860

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Item
http://www.wikidata.org/entity/Q30495488
description
2002 nî lūn-bûn
@nan
2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
@ast
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
@en
type
label
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
@ast
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
@en
prefLabel
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
@ast
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932