The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
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Gap junctions couple astrocytes and oligodendrocytesHuman oligodendrocytes express Cx31.3: function and interactions with Cx32 mutantsLoss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like diseaseGap 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.Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1.Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defectsClinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case reportEarly disruption of glial communication via connexin gap junction in multiple sclerosis, Baló's disease and neuromyelitis optica.The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.Deletion of oligodendrocyte Cx32 and astrocyte Cx43 causes white matter vacuolation, astrocyte loss and early mortality.A new mutation in GJC2 associated with subclinical leukodystrophy.Episodic neurological dysfunction in hereditary peripheral neuropathyApparent diffusion coefficient restriction in the white matter: going beyond acute brain territorial ischemiaMyelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of X-linked Charcot-Marie-Tooth disease.Hand weakness in Charcot-Marie-Tooth disease 1XUpdate on Charcot-Marie-Tooth disease.Charcot-Marie-Tooth disease: a clinico-genetic confrontation.Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).Diagnosis of Charcot-Marie-Tooth disease.Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.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.Functional heterotypic interactions between astrocyte and oligodendrocyte connexins.Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.Gap junction pathology in multiple sclerosis lesions and normal-appearing white matter.X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.Physiology of Astroglia.MYRF is associated with encephalopathy with reversible myelin vacuolization.
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P2860
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
The CNS phenotype of X-linked ...... ore than a peripheral problem.
@en
The CNS phenotype of X-linked ...... ore than a peripheral problem.
@nl
type
label
The CNS phenotype of X-linked ...... ore than a peripheral problem.
@en
The CNS phenotype of X-linked ...... ore than a peripheral problem.
@nl
prefLabel
The CNS phenotype of X-linked ...... ore than a peripheral problem.
@en
The CNS phenotype of X-linked ...... ore than a peripheral problem.
@nl
P2093
P1433
P1476
The CNS phenotype of X-linked ...... ore than a peripheral problem.
@en
P2093
Erin M Simon
Harold G Marks
Robert A Taylor
Steven S Scherer
P304
P356
10.1212/01.WNL.0000095960.48964.25
P407
P577
2003-12-01T00:00:00Z