X-linked dominant hereditary motor and sensory neuropathy.
about
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene.X-linked Charcot-Marie-Tooth disease and connexin32.Nodes, paranodes, and incisures: from form to function.Molecular anatomy and genetics of myelin proteins in the peripheral nervous systemElectrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.Linkage localization of X-linked Charcot-Marie-Tooth disease.Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathyA Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth NeuropathyConnexinopathies: a structural and functional glimpseFunctional gap junctions in the schwann cell myelin sheath.How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Molecular genetics of X-linked Charcot-Marie-Tooth disease.Charcot-marie-tooth disease: seventeen causative genes.Nerve biopsy: requirements for diagnosis and clinical value.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Charcot-Marie-Tooth disease and pathways to molecular based therapies.A Review of X-linked Charcot-Marie-Tooth Disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.The pathology of charcot-marie-tooth disease and related disorders.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.Animal models for inherited peripheral neuropathies.Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models.Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.Nerve injury and inflammatory cytokines modulate gap junctions in the peripheral nervous system.Connexin32-null mice develop demyelinating peripheral neuropathy.Altered assembly of gap junction channels caused by COOH-terminal connexin32 mutants of CMTX.
P2860
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P2860
X-linked dominant hereditary motor and sensory neuropathy.
description
1990 nî lūn-bûn
@nan
1990 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
X-linked dominant hereditary motor and sensory neuropathy.
@ast
X-linked dominant hereditary motor and sensory neuropathy.
@en
X-linked dominant hereditary motor and sensory neuropathy.
@nl
type
label
X-linked dominant hereditary motor and sensory neuropathy.
@ast
X-linked dominant hereditary motor and sensory neuropathy.
@en
X-linked dominant hereditary motor and sensory neuropathy.
@nl
prefLabel
X-linked dominant hereditary motor and sensory neuropathy.
@ast
X-linked dominant hereditary motor and sensory neuropathy.
@en
X-linked dominant hereditary motor and sensory neuropathy.
@nl
P2093
P356
P1433
P1476
X-linked dominant hereditary motor and sensory neuropathy.
@en
P2093
P304
P356
10.1093/BRAIN/113.5.1511
P407
P478
113 ( Pt 5)
P577
1990-10-01T00:00:00Z