Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
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Gap 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.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 defectsPhenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.A new mutation in GJC2 associated with subclinical leukodystrophy.How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Molecular genetics of X-linked Charcot-Marie-Tooth disease.Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.Mechanisms of disease: inherited demyelinating neuropathies--from basic to clinical research.X-linked Charcot-Marie-Tooth disease.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.Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.Cellular mechanisms of connexin32 mutations associated with CNS manifestations.Inherited polyneuropathy in Leonberger dogs: a mixed or intermediate form of Charcot-Marie-Tooth disease?Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
P2860
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P2860
Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Efficient neurophysiologic sel ...... families: ten novel mutations.
@en
Efficient neurophysiologic sel ...... families: ten novel mutations.
@nl
type
label
Efficient neurophysiologic sel ...... families: ten novel mutations.
@en
Efficient neurophysiologic sel ...... families: ten novel mutations.
@nl
prefLabel
Efficient neurophysiologic sel ...... families: ten novel mutations.
@en
Efficient neurophysiologic sel ...... families: ten novel mutations.
@nl
P2093
P356
P1433
P1476
Efficient neurophysiologic sel ...... families: ten novel mutations.
@en
P2093
P304
P356
10.1212/WNL.51.5.1412
P407
P577
1998-11-01T00:00:00Z