Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
about
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.Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.Connexin26 expression in brain parenchymal cells demonstrated by targeted connexin ablation in transgenic mice.Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defectsAblation of Cx47 in transgenic mice leads to the loss of MUPP1, ZONAB and multiple connexins at oligodendrocyte-astrocyte gap junctionsPosterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.Classification and diagnosis of the inherited neuropathies.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 neuropathyDominantly inherited peripheral neuropathies.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of X-linked Charcot-Marie-Tooth disease.Update on Charcot-Marie-Tooth disease.Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.Astrocyte regulation of CNS inflammation and remyelination.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.Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement.Functional heterotypic interactions between astrocyte and oligodendrocyte connexins.Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.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.Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.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.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.Leukodystrophies: Five new things.Ablation of connexin30 in transgenic mice alters expression patterns of connexin26 and connexin32 in glial cells and leptomeninges
P2860
Q21261384-6EC76148-1C9C-4F75-9C71-F0CD84C5BF1DQ24534074-B39271BD-5E52-47A1-95AF-0E44E6C91C0FQ24655300-24FFB1CA-BC49-4BC5-A9E9-E201095F64F1Q26823332-556BE7B4-D2EA-4DE4-B1AF-8D9419B19C67Q26827402-2C5D67E1-FD28-4173-8398-D37813656EB3Q27316720-BFC5E3FB-685D-4837-B5FA-4E3DDA1727CCQ30388874-86063FEA-5BFD-4F00-91F6-E31FCDDCB680Q30449325-1A8CBBEA-66A7-4945-8024-BA99DFC16B6BQ30466096-FA898BC8-8732-47F4-9CD5-1D023C6AD7BDQ30485962-1F10DEBF-DBAE-414F-8E05-6A0E36643E68Q30486564-E05A1165-EC3A-48DF-9AB6-2992B6261F9FQ31087193-BDB06742-4882-4451-B892-D2B1871486D0Q33616045-060C2DD2-1A96-4B1C-8B7B-59DB77A1414DQ34038303-71841848-44A7-4691-A0C5-BC8893B0C4ADQ34478062-60F5F9C7-AC2A-4515-8B51-21A857AA7A48Q34582703-0602EB0C-5E69-44E3-8A1C-E53B78F182E4Q34994055-D808F6C5-7F79-4B49-AD16-91E71D273E29Q35149122-B2C885FB-8EE5-4777-8B0E-4FE924BD47FEQ35193592-64549057-8446-4D2A-99AA-B0D98C4F303BQ36507132-9F2DF480-BE38-4E58-8FD7-1AD31F66DB3CQ36507155-0CEC853B-6024-442A-A9DA-B4BA98DCBC4BQ36937164-563A3B16-C11F-4E59-8E02-D05AEE60EDB5Q37576096-72079180-C032-4E8F-89A0-427845B57CAAQ38222890-86C2FDFF-784B-4ACA-B664-F06F4F57BF9BQ38265030-0EB5F9C0-FB8B-463D-9843-A45C89722737Q38589445-5F2B378E-EAE6-4CEE-A1CE-0CB1C351742AQ39404453-15877214-16D9-4989-9528-1BDB2CAFDA64Q42574030-6C779849-27C6-4490-85B1-0CE98DC34C42Q42860447-96911364-0559-46F0-A26C-C0D4083F8B83Q43929439-F0726141-0E3E-4893-8517-0B4ABB8F32C7Q46128065-78967214-0050-4600-9D66-FA23726567A5Q47780826-C3904995-31B1-40BD-AD9F-972C1B31432EQ48190114-EBB13042-4E17-47D6-8E6C-4FCC04C14517Q48424294-A59CE9CE-3006-4395-A374-E4AA50789E68Q48579102-63A27A08-17A5-47C3-B57A-7C6864489BC9Q48765259-C6C29D96-C540-4FA4-A293-9A652AF73F44Q52138934-C99A9F8F-A523-4284-811B-DF778FBD14AAQ53084843-B1D9E412-640B-4CEB-AF2B-8ED6B4B9D797Q55316928-71FF9D3F-0893-4739-A652-1D982444B705Q58493621-4DB14A99-1909-4645-8A95-3DE366A9C7BA
P2860
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Transient central nervous syst ...... d Charcot-Marie-Tooth disease.
@en
Transient central nervous syst ...... d Charcot-Marie-Tooth disease.
@nl
type
label
Transient central nervous syst ...... d Charcot-Marie-Tooth disease.
@en
Transient central nervous syst ...... d Charcot-Marie-Tooth disease.
@nl
prefLabel
Transient central nervous syst ...... d Charcot-Marie-Tooth disease.
@en
Transient central nervous syst ...... d Charcot-Marie-Tooth disease.
@nl
P2093
P2860
P356
P1433
P1476
Transient central nervous syst ...... ed Charcot-Marie-Tooth disease
@en
P2093
Henry L Paulson
James Y Garbern
John A Kamholz
Karen M Krajewski
Kenneth H Fischbeck
Richard A Lewis
Robert I Grossman
Timothy F Hoban
P2860
P304
P356
10.1002/ANA.10305
P577
2002-10-01T00:00:00Z