GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
about
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsGap junctions in inherited human disorders of the central nervous system.Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorderVariable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.New mutation of pelizaeus--merzbacher-like disease; a report from iran.Heterogeneity in oligodendroglia: Is it relevant to mouse models and human disease?Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.Mutations in cardiovascular connexin genes.High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseExpanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe formMitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatmentSegregated Foxc2, NFATc1 and Connexin expression at normal developing venous valves, and Connexin-specific differences in the valve phenotypes of Cx37, Cx43, and Cx47 knockout mice.Do cell junction protein mutations cause an airway phenotype in mice or humans?Childhood leukodystrophies: a clinical perspective.Demyelinating prenatal and infantile developmental neuropathies.Connexins in lymphatic vessel physiology and disease.Human diseases associated with connexin mutations.Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).Changes in object recognition and anxiety-like behaviour in mice expressing a Cx47 mutation that causes Pelizaeus-Merzbacher-like disease.GJA4/Connexin 37 Mutations Correlate with Secondary Lymphedema Following Surgery in Breast Cancer Patients.“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia
P2860
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P2860
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@ast
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@en
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@nl
type
label
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@ast
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@en
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@nl
prefLabel
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@ast
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@en
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@nl
P2093
P1433
P1476
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
@en
P2093
Boespflug-Tanguy O
Brockmann K
Burlina AP
Diekmann S
Ohlenbusch A
P304
P356
10.1212/01.WNL.0000284828.84464.35
P407
P577
2007-12-19T00:00:00Z