Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
about
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth diseaseHDAC1/2-Dependent P0 Expression Maintains Paranodal and Nodal Integrity Independently of Myelin Stability through Interactions with NeurofascinsCFTR-deficient pigs display peripheral nervous system defects at birth.Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanA 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.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.Glycans of myelin proteins.Towards a functional pathology of hereditary neuropathies.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.Genetic epidemiology of Charcot-Marie-Tooth disease.
P2860
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P2860
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Novel mutation in the myelin p ...... y motor and sensory neuropathy
@ast
Novel mutation in the myelin p ...... y motor and sensory neuropathy
@en
type
label
Novel mutation in the myelin p ...... y motor and sensory neuropathy
@ast
Novel mutation in the myelin p ...... y motor and sensory neuropathy
@en
prefLabel
Novel mutation in the myelin p ...... y motor and sensory neuropathy
@ast
Novel mutation in the myelin p ...... y motor and sensory neuropathy
@en
P2093
P2860
P356
P1476
Novel mutation in the myelin p ...... y motor and sensory neuropathy
@en
P2093
B A Kakulas
B A Phillips
F L Mastaglia
J E Edmondston
J Hallmayer
S D Wilton
S M Dorosz
P2860
P304
P356
10.1136/JNNP.67.2.174
P407
P577
1999-08-01T00:00:00Z