Literature DB >> 19683444

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands.

Heinz Jungbluth1, Carina Wallgren-Pettersson, Jocelyn F Laporte.   

Abstract

Entities:  

Mesh：

Year:  2009        PMID： 19683444     DOI： 10.1016/j.nmd.2009.06.373

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


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  6 in total

1.  Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.

Authors:  F Hanisch; T Müller; A Dietz; M Bitoun; W Kress; J Weis; G Stoltenburg; S Zierz
Journal:  J Neurol       Date:  2011-01-09       Impact factor: 4.849

2.  Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

Authors:  Karen Majczenko; Ann E Davidson; Sandra Camelo-Piragua; Pankaj B Agrawal; Richard A Manfready; Xingli Li; Sucheta Joshi; Jishu Xu; Weiping Peng; Alan H Beggs; Jun Z Li; Margit Burmeister; James J Dowling
Journal:  Am J Hum Genet       Date:  2012-07-19       Impact factor: 11.025

Review 3.  Congenital myopathies: an update.

Authors:  Jessica R Nance; James J Dowling; Elizabeth M Gibbs; Carsten G Bönnemann
Journal:  Curr Neurol Neurosci Rep       Date:  2012-04       Impact factor: 5.081

4.  Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

Authors:  Teerin Liewluck; Tracy L Lovell; Anna V Bite; Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2010-12       Impact factor: 4.296

5.  Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Authors:  Jorge Oliveira; Márcia E Oliveira; Wolfram Kress; Ricardo Taipa; Manuel Melo Pires; Pascale Hilbert; Peter Baxter; Manuela Santos; Henk Buermans; Johan T den Dunnen; Rosário Santos
Journal:  Eur J Hum Genet       Date:  2012-09-12       Impact factor: 4.246

6.  'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Authors:  Matteo Garibaldi; John Rendu; Julie Brocard; Emmanuelle Lacene; Julien Fauré; Guy Brochier; Maud Beuvin; Clemence Labasse; Angeline Madelaine; Edoardo Malfatti; Jorge Alfredo Bevilacqua; Fabiana Lubieniecki; Soledad Monges; Ana Lia Taratuto; Jocelyn Laporte; Isabelle Marty; Giovanni Antonini; Norma Beatriz Romero
Journal:  Acta Neuropathol Commun       Date:  2019-01-05       Impact factor: 7.801
  6 in total

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