Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
about
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.Protein misfolding and clearance in demyelinating peripheral neuropathies: Therapeutic implications.Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Glycans of myelin proteins.Novel MPZ mutations and congenital hypomyelinating neuropathyAntibodies to myelin P0 and ceramide perpetuate neuropathy in long standing treated leprosy patients.Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.Two novel MPZ mutations in Chinese CMT patients.Congenital hypomyelinating neuropathy due to a novel MPZ mutation
P2860
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P2860
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
description
2009 nî lūn-bûn
@nan
2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Clinical features and molecula ...... nating and axonal neuropathies
@ast
Clinical features and molecula ...... nating and axonal neuropathies
@en
type
label
Clinical features and molecula ...... nating and axonal neuropathies
@ast
Clinical features and molecula ...... nating and axonal neuropathies
@en
prefLabel
Clinical features and molecula ...... nating and axonal neuropathies
@ast
Clinical features and molecula ...... nating and axonal neuropathies
@en
P2093
P2860
P356
P1476
Clinical features and molecula ...... nating and axonal neuropathies
@en
P2093
Alessandro Geroldi
Emilia Bellone
Marina Grandis
Massimo Acquaviva
Paola Ciotti
Paola Fossa
Rossella Gulli
Simona Capponi
P2860
P2888
P304
P356
10.1038/EJHG.2009.37
P577
2009-03-18T00:00:00Z