Literature DB >> 9452091

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

F Schiavon1, A Rampazzo, L Merlini, C Angelini, M L Mostacciuolo.   

Abstract

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Year:  1998        PMID： 9452091     DOI： 10.1002/humu.1380110170

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  6 in total

1.  Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

Authors:  Wei Wang; Chen Wang; D Brian Dawson; Erik C Thorland; Patrick A Lundquist; Bruce W Eckloff; Yanhong Wu; Saurabh Baheti; Jared M Evans; Steven S Scherer; Peter J Dyck; Christopher J Klein
Journal:  Neurology       Date:  2016-04-13       Impact factor: 9.910

2.  Novel MPZ mutations and congenital hypomyelinating neuropathy.

Authors:  Hugh J McMillan; Sandro Santagata; Frederic Shapiro; Sat Dev Batish; Libby Couchon; Stephen Donnelly; Peter B Kang
Journal:  Neuromuscul Disord       Date:  2010-11       Impact factor: 4.296

3.  Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.

Authors:  Geir J Braathen; Jette C Sand; Michael B Russell
Journal:  BMC Res Notes       Date:  2010-04-12

4.  A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.

Authors:  L Santoro; F Manganelli; E Di Maria; D Bordo; D Cassandrini; F Ajmar; P Mandich; E Bellone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-02       Impact factor: 10.154

5.  Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.

Authors:  Hye Jin Kim; Soo Hyun Nam; Hye Mi Kwon; Si On Lim; Jae Hong Park; Hyun Su Kim; Sang Beom Kim; Kyung Suk Lee; Ji Eun Lee; Byung-Ok Choi; Ki Wha Chung
Journal:  Mol Genet Genomic Med       Date:  2021-04-06       Impact factor: 2.183

6.  Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Authors:  Vincent Timmerman; Alleene V Strickland; Stephan Züchner
Journal:  Genes (Basel)       Date:  2014-01-22       Impact factor: 4.096
  6 in total

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