Literature DB >> 26001911

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.

Julia M Henry1, Nizar Chahin, Yael Shiloh-Malawsky, Zheng Fan, Duygu Selcen.   

Abstract

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Year:  2015        PMID： 26001911     DOI： 10.1007/s00415-015-7775-7

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  4 in total

1.  A new syndrome of myopathy with muscle spindle excess.

Authors:  Stephani Stassou; Ali Nadroo; Romaine Schubert; Steven Chin; Madhu Gudavalli
Journal:  J Perinat Med       Date:  2005       Impact factor: 1.901

2.  Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.

Authors:  Ineke van der Burgt; William Kupsky; Stephani Stassou; Ali Nadroo; Cândida Barroso; Angelika Diem; Christian P Kratz; Radovan Dvorsky; Mohammad Reza Ahmadian; Martin Zenker
Journal:  J Med Genet       Date:  2007-04-05       Impact factor: 6.318

3.  Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Authors:  Anamaria Bolocan; Susana Quijano-Roy; Andreea M Seferian; Clarisse Baumann; Valérie Allamand; Pascale Richard; Brigitte Estournet; Robert Carlier; Hélène Cavé; Corine Gartioux; Nathalie Blin; Anne-Gaëlle Le Moing; Teresa Gidaro; Dominique P Germain; Michel Fardeau; Thomas Voit; Laurent Servais; Norma Beatriz Romero
Journal:  Neuromuscul Disord       Date:  2014-06-28       Impact factor: 4.296

4.  Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Authors:  Yoko Aoki; Tetsuya Niihori; Hiroshi Kawame; Kenji Kurosawa; Hirofumi Ohashi; Yukichi Tanaka; Mirella Filocamo; Kumi Kato; Yoichi Suzuki; Shigeo Kure; Yoichi Matsubara
Journal:  Nat Genet       Date:  2005-09-18       Impact factor: 38.330
  4 in total

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