Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth diseaseMutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseHuman oligodendrocytes express Cx31.3: function and interactions with Cx32 mutantsGap junctions in inherited human disorders of the central nervous system.Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisSystemic 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.CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene.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.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 ischemiaClinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of X-linked Charcot-Marie-Tooth disease.CMTX Disorder and CamKinase."Reversible" stroke like episodes with bilateral diffusion restriction brain magnetic resonance imaging changes.Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.Do cell junction protein mutations cause an airway phenotype in mice or humans?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.Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.MYRF is associated with encephalopathy with reversible myelin vacuolization.CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.
P2860
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P2860
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
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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
Transient, recurrent, white ma ...... th novel connexin 32 mutation.
@en
Transient, recurrent, white ma ...... th novel connexin 32 mutation.
@nl
type
label
Transient, recurrent, white ma ...... th novel connexin 32 mutation.
@en
Transient, recurrent, white ma ...... th novel connexin 32 mutation.
@nl
prefLabel
Transient, recurrent, white ma ...... th novel connexin 32 mutation.
@en
Transient, recurrent, white ma ...... th novel connexin 32 mutation.
@nl
P2093
P1433
P1476
Transient, recurrent, white ma ...... th novel connexin 32 mutation.
@en
P2093
Ann-Dorte Sperfeld
Carsten Bergmann
Klaus Zerres
P304
P356
10.1001/ARCHNEUR.60.4.605
P577
2003-04-01T00:00:00Z