Literature DB >> 8988161

PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

E Nelis, B Holmberg, R Adolfsson, G Holmgren, C van Broeckhoven.   

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Year:  1997        PMID： 8988161     DOI： 10.1038/ng0197-13

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  12 in total

1.  Detecting polymorphisms and mutations in candidate genes.

Authors:  Julianne S Collins; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2002-11       Impact factor: 11.025

Review 2.  How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

Authors:  Andrzej Kochański
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

Review 3.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

4.  Autosomal recessive forms of Charcot-Marie-Tooth disease.

Authors:  J M Vallat; D Grid; C Magdelaine; F Sturtz; M Tazir
Journal:  Curr Neurol Neurosci Rep       Date:  2004-09       Impact factor: 5.081

5.  A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Authors:  Kleopas A Kleopa; Domna-Maria Georgiou; Paschalis Nicolaou; Pantelitsa Koutsou; Eleftherios Papathanasiou; Theodoros Kyriakides; Kyproula Christodoulou
Journal:  Neurogenetics       Date:  2004-06-17       Impact factor: 2.660

6.  Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Authors:  Gabriel Miltenberger-Miltenyi; Thomas Schwarzbraun; Wolfgang N Löscher; Julia Wanschitz; Christian Windpassinger; Hans-Christoph Duba; Rainer Seidl; Gerhard Albrecht; Helga Weirich-Schwaiger; Heinz Zoller; Gerd Utermann; Michaela Auer-Grumbach; Andreas R Janecke
Journal:  Eur J Hum Genet       Date:  2009-03-04       Impact factor: 4.246

Review 7.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

8.  Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Authors:  Thalia Antoniadi; Chris Buxton; Gemma Dennis; Natalie Forrester; Debbie Smith; Peter Lunt; Sarah Burton-Jones
Journal:  BMC Med Genet       Date:  2015-09-21       Impact factor: 2.103

9.  Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.

Authors:  Chundi Vinay Kumar; Rayapadi G Swetha; Anand Anbarasu; Sudha Ramaiah
Journal:  Adv Bioinformatics       Date:  2014-10-20

Review 10.  PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Authors:  Barbara W van Paassen; Anneke J van der Kooi; Karin Y van Spaendonck-Zwarts; Camiel Verhamme; Frank Baas; Marianne de Visser
Journal:  Orphanet J Rare Dis       Date:  2014-03-19       Impact factor: 4.123
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