An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
about
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseCFTR-deficient pigs display peripheral nervous system defects at birth.Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Understanding Schwann cell-neurone interactions: the key to Charcot-Marie-Tooth disease?A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.Mutation in Mpzl3, a novel [corrected] gene encoding a predicted [corrected] adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities.Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Novel MPZ mutations and congenital hypomyelinating neuropathyAxonal and demyelinating forms of the MPZ Thr124Met mutation.Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.Nerve conduction abnormalities in aging mice deficient for myelin-associated glycoprotein.Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy
P2860
Q24632769-0D502AB8-3996-4D3A-A5DF-0EE623A13A19Q30457535-B798ADD7-687E-47CE-AC0B-48D3BB15F125Q30496685-34B2B947-58EB-44FC-9789-1906FA270372Q34713816-3AE20A09-B902-4523-AAE5-CEACE85247A1Q34713823-19A6FEF8-87CB-4555-802D-BD80CF03F89EQ35479372-ECE20F2D-37D4-43B8-8CF5-9CA6824F9561Q36226776-335A1B7B-E1C1-453B-9BF0-00BF6DA83EAAQ36276587-099469AA-E720-4CC8-A672-4197688DF5A1Q36484332-90E872D1-ADBF-4A3A-AABA-12832A6CDE2AQ36507132-C34C8C36-22FE-46B4-8EC3-BB4AF4ED016EQ36507144-6E04B47B-0718-4911-B00D-DCAA42CA78F4Q36507186-869DE464-61F3-40E6-BD94-A5A5D074DE58Q37320433-1F44D30A-ECFE-40CF-9EB7-4747D9213199Q37349747-E8D1D49D-A34C-484F-AB9D-8BFF6950EA8EQ38007033-887F3831-AA78-4302-AC27-654F02BEFDF3Q38100659-2591E3F1-4139-4110-AE57-65727D2DE3ABQ38292207-211D5CF1-F8FF-4206-82CD-BC5A016C3DBBQ41904430-F59D7995-4C50-445C-9DC0-510B4F90469DQ44544957-C992273A-1E2B-4C75-83E1-4B8AF66199ADQ45891394-E490C110-758E-4C99-8889-A10906DEB947Q48788255-94ECF862-8F38-428A-BC81-A5E7D3778DADQ57637003-FF442673-34BC-4242-86F8-F60533393C00
P2860
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
description
2000 nî lūn-bûn
@nan
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
An axonal form of Charcot-Mari ...... gene (Thr124Met or Asp75Val).
@ast
An axonal form of Charcot-Mari ...... gene (Thr124Met or Asp75Val).
@en
type
label
An axonal form of Charcot-Mari ...... gene (Thr124Met or Asp75Val).
@ast
An axonal form of Charcot-Mari ...... gene (Thr124Met or Asp75Val).
@en
prefLabel
An axonal form of Charcot-Mari ...... gene (Thr124Met or Asp75Val).
@ast
An axonal form of Charcot-Mari ...... gene (Thr124Met or Asp75Val).
@en
P2093
P2860
P356
P1476
An axonal form of Charcot-Mari ...... o gene (Thr124Met or Asp75Val)
@en
P2093
K Nakashima
M Yamamoto
T Takegami
T Yoshihara
P2860
P304
P356
10.1136/JNNP.69.6.806
P407
P577
2000-12-01T00:00:00Z