Literature DB >> 20852879

Neuromuscular disorders and 2010: recent advances.

Anna Sarkozy1, Hanns Lochmüller.   

Abstract

This short review summarises the research articles related to neuromuscular disorders published in the Journal of Neurology over the last year from May 2009 to July 2010.

Entities:  

Mesh：

Year:  2010        PMID： 20852879     DOI： 10.1007/s00415-010-5745-7

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


  14 in total

1.  Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Authors:  Sueli M Oba-Shinjo; Roseli da Silva; Fernanda G Andrade; Rachel E Palmer; Robert J Pomponio; Kristina M Ciociola; Mary S Carvalho; Paulo S Gutierrez; Gilda Porta; Carlo D Marrone; Verônica Munoz; Anderson K Grzesiuk; Juan C Llerena; Célia R Berditchevsky; Claudia Sobreira; Dafne Horovitz; Thamine P Hatem; Elizabeth R C Frota; Rogerio Pecchini; João Aris Kouyoumdjian; Lineu Werneck; Veronica M Amado; José S Camelo; Robert J Mattaliano; Suely K N Marie
Journal:  J Neurol       Date:  2009-07-09       Impact factor: 4.849

2.  Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications.

Authors:  Katharina Eger; Berit Jordan; Sylvia Habermann; Stephan Zierz
Journal:  J Neurol       Date:  2009-10-17       Impact factor: 4.849

3.  Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment.

Authors:  Joerg-Patrick Stübgen; Annette Stipp
Journal:  J Neurol       Date:  2010-03-30       Impact factor: 4.849

4.  Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.

Authors:  I C Kiphuth; S Krause; H B Huttner; G Dekomien; T Struffert; R Schröder
Journal:  J Neurol       Date:  2009-12-10       Impact factor: 4.849

5.  Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Authors:  A Ben Ammar; F Petit; N Alexandri; K Gaudon; S Bauché; A Rouche; D Gras; E Fournier; J Koenig; T Stojkovic; A Lacour; P Petiot; F Zagnoli; L Viollet; N Pellegrini; D Orlikowski; L Lazaro; X Ferrer; G Stoltenburg; M Paturneau-Jouas; F Hentati; M Fardeau; D Sternberg; D Hantaï; P Richard; B Eymard
Journal:  J Neurol       Date:  2009-12-11       Impact factor: 4.849

6.  Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

Authors:  Jia Huang; Xingyao Wu; Gladys Montenegro; Justin Price; Gaofeng Wang; Jeffery M Vance; Michael E Shy; Stephan Züchner
Journal:  J Neurol       Date:  2009-12-01       Impact factor: 4.849

7.  The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Authors:  Marzia Pollazzon; Tiina Suominen; Sini Penttilä; Alessandro Malandrini; Maria Alessandra Carluccio; Mauro Mondelli; Annabella Marozza; Antonio Federico; Alessandra Renieri; Peter Hackman; Maria Teresa Dotti; Bjarne Udd
Journal:  J Neurol       Date:  2009-11-13       Impact factor: 4.849

8.  Risk factors for tumor occurrence in patients with myasthenia gravis.

Authors:  Antonietta Citterio; Ettore Beghi; Andrea Millul; Amelia Evoli; Renato Mantegazza; Carlo Antozzi; Fulvio Baggi; Ferdinando Cornelio; Luca Durelli; Marinella Clerico; Giovanni Piccolo; Vittorio Cosi
Journal:  J Neurol       Date:  2009-03-29       Impact factor: 4.849

9.  Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

Authors:  Rita Horváth; Andreas Bender; Angela Abicht; Elke Holinski-Feder; Birgit Czermin; Tobias Trips; Peter Schneiderat; Hanns Lochmüller; Thomas Klopstock
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849

10.  Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy.

Authors:  Chiara S M Straathof; W C G Truus Overweg-Plandsoen; Gert Jan van den Burg; Anneke J van der Kooi; Jan J G M Verschuuren; Imelda J M de Groot
Journal:  J Neurol       Date:  2009-03-22       Impact factor: 4.849
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  1 in total

Review 1.  Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.

Authors:  Charlotte Vrinten; Angeli M van der Zwaag; Stephanie S Weinreich; Rob J P M Scholten; Jan J G M Verschuuren
Journal:  Cochrane Database Syst Rev       Date:  2014-12-17
  1 in total

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