Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
about
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth diseaseAuditory nerve is affected in one of two different point mutations of the neurofilament light gene.Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.Connexinopathies: a structural and functional glimpseHow do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of X-linked Charcot-Marie-Tooth disease.X inactivation in females with X-linked Charcot-Marie-Tooth disease.Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysisClinical and biophysical characterization of 19 GJB1 mutations.Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutationsCentrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.Demyelinating prenatal and infantile developmental neuropathies.Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.[Genetics of neuropathies].Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.Onset and duration of mivacurium-induced neuromuscular blockade in children with Charcot-Marie-Tooth disease. A case series with five children.Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.A chronic leg ulcer presenting with Charcot-Marie-Tooth disease and type 2 diabetes: a case report.CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.Genetic epidemiology of Charcot-Marie-Tooth disease.X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.Pathological classification of equine recurrent laryngeal neuropathyMyelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice
P2860
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P2860
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Clinical, electrophysiological ...... d Charcot-Marie-Tooth disease.
@en
Clinical, electrophysiological ...... d Charcot-Marie-Tooth disease.
@nl
type
label
Clinical, electrophysiological ...... d Charcot-Marie-Tooth disease.
@en
Clinical, electrophysiological ...... d Charcot-Marie-Tooth disease.
@nl
prefLabel
Clinical, electrophysiological ...... d Charcot-Marie-Tooth disease.
@en
Clinical, electrophysiological ...... d Charcot-Marie-Tooth disease.
@nl
P2093
P356
P1433
P1476
Clinical, electrophysiological ...... d Charcot-Marie-Tooth disease.
@en
P2093
Maisonobe T
P304
P356
10.1093/BRAIN/124.10.1958
P407
P577
2001-10-01T00:00:00Z