Literature DB >> 24505598

The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Jean-Claude Kaplan, Dalil Hamroun.   

Abstract

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Year:  2012        PMID： 24505598     DOI： 10.1016/j.nmd.2012.10.021

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  7 in total

1.  Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Authors:  Pankaj B Agrawal; Mugdha Joshi; Nicholas S Marinakis; Klaus Schmitz-Abe; Pedro D S C Ciarlini; Jane C Sargent; Kyriacos Markianos; Umberto De Girolami; David A Chad; Alan H Beggs
Journal:  JAMA Neurol       Date:  2014-11       Impact factor: 18.302

2.  Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Authors:  Manoj P Menezes; Leigh Waddell; Guy M Lenk; Simranpreet Kaur; Daniel G MacArthur; Miriam H Meisler; Nigel F Clarke
Journal:  Neuromuscul Disord       Date:  2014-05-04       Impact factor: 4.296

3.  Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

Authors:  Marius Kuhn; Dieter Gläser; Pushpa Raj Joshi; Stephan Zierz; Stephan Wenninger; Benedikt Schoser; Marcus Deschauer
Journal:  J Neurol       Date:  2016-02-17       Impact factor: 4.849

Review 4.  Altered cross-bridge properties in skeletal muscle dystrophies.

Authors:  Aziz Guellich; Elisa Negroni; Valérie Decostre; Alexandre Demoule; Catherine Coirault
Journal:  Front Physiol       Date:  2014-10-14       Impact factor: 4.566

5.  Application of multi-objective optimization to pooled experiments of next generation sequencing for detection of rare mutations.

Authors:  Julius Zilinskas; Algirdas Lančinskas; Mario Rosario Guarracino
Journal:  PLoS One       Date:  2014-09-02       Impact factor: 3.240

Review 6.  Neuromuscular disorders in zebrafish: state of the art and future perspectives.

Authors:  Andrea Pappalardo; Letizia Pitto; Chiara Fiorillo; M Alice Donati; Claudio Bruno; Filippo M Santorelli
Journal:  Neuromolecular Med       Date:  2013-04-13       Impact factor: 3.843

Review 7.  The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.

Authors:  Fedik Rahimov; Louis M Kunkel
Journal:  J Cell Biol       Date:  2013-05-13       Impact factor: 10.539
  7 in total

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