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Neuromuscular Disorders
Volume 20, Issue 8, Pages 479-568 (August 2010)
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Editorial Board
page IFC
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Review


Hereditary muscular dystrophies and the heart
M.C.E. Hermans, Y.M. Pinto, I.S.J. Merkies, C.E.M. de Die-Smulders, H.J.G.M. Crijns, C.G. Faber
pages 479-492
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Research papers


Impact of tracheostomy on swallowing performance in Duchenne muscular dystrophy
Nicolas Terzi, Hélène Prigent, Michèle Lejaille, Line Falaize, Djillali Annane, David Orlikowski, Frédéric Lofaso
pages 493-498
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Clinical and genetic characterization of manifesting carriers of DMD mutations
Payam Soltanzadeh, Michael J. Friez, Diane Dunn, Andrew von Niederhausern, Olga L. Gurvich, Kathryn J. Swoboda, Jacinda B. Sampson, Alan Pestronk, Anne M. Connolly, Julaine M. Florence, Richard S. Finkel, Carsten G. Bönnemann, Livija Medne, Jerry R. Mendell, Katherine D. Mathews, Brenda L. Wong, Michael D. Sussman, Jonathan Zonana, Karen Kovak, Sidney M. Gospe, Eduard Gappmaier, Laura E. Taylor, Michael T. Howard, Robert B. Weiss, Kevin M. Flanigan
pages 499-504
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Reduction of abnormal behavioral response to brief restraint by information from other mice in dystrophin-deficient mdx mice
Kazuhiro Yamamoto, Daisuke Yamada, Tomohiro Kabuta, Akio Takahashi, Keiji Wada, Masayuki Sekiguchi
pages 505-511
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Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication
L. Volpi, G. Ricci, C. Passino, E. Di Pierri, G. Alì, M. Maccherini, S. Benedetti, G. Lattanzi, M. Columbaro, M. Ferrari, D. Caramella, P. Tanganelli, M. Emdin, G. Siciliano
pages 512-516
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Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
N. Deconinck, E. Dion, R. Ben Yaou, A. Ferreiro, B. Eymard, L. Briñas, C. Payan, T. Voit, P. Guicheney, P. Richard, V. Allamand, G. Bonne, T. Stojkovic
pages 517-523
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Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
Bung Chan Lim, Chang-Seok Ki, Jong-Won Kim, Anna Cho, Min Jung Kim, Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Woong Yang Park, Yun-Jung Lim, In One Kim, Jun Su Lee, Jong Hee Chae
pages 524-530
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Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation
Werner Stenzel, Stefan Prokop, Wolfram Kress, Stephanie Huppmann, Andrea Loui, Nanette M.E. Sarioglu, Nigel G. Laing, John C. Sparrow, Frank L. Heppner, Hans H. Goebel
pages 531-533
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Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease
Yi-Chung Lee, Tso-Ching Lee, Kon-Ping Lin, Ming-Wei Lin, Ming-Hong Chang, Bing-Wen Soong
pages 534-539
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Validation of an automated computational method for skeletal muscle fibre morphometry analysis
Fleur Garton, Jane T. Seto, Kathryn N. North, Nan Yang
pages 540-547
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Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
Claire Wary, Aleksandra Nadaj-Pakleza, Pascal Laforêt, Kristl G. Claeys, Robert Carlier, Aurélien Monnet, Servanne Fleury, Céline Baligand, Bruno Eymard, Philippe Labrune, Pierre G. Carlier
pages 548-558
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Workshop report


174th ENMC International Workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: Implications of scientific advances 19–21 March 2010, Naarden, The Netherlands free full text
J. Poulton, A.L. Bredenoord
pages 559-563
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Patients' forum


A congenital muscular dystrophy quality of life and caregiver assessment survey
Diane Smith-Hoban, Susan Sklaroff-Van Hook, Anne Rutkowski
pages 564-565
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Congenital muscular dystrophy: A parent’s hopes and fears
Susan Sklaroff-Van Hook
page 566
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Erratum


Erratum to ‘Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1’ [Neuromuscular Disorders 20 (2010) 238–240] free full text
Ryan M. Hung, Grace Yoon, Cynthia E. Hawkins, Willliam Halliday, Doug Biggar, Jiri Vajsar
page 567
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WMS 2010
page I
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WMS online application form
page II
Full-Text PDF (131 KB)


WMS News
pages III-IV
Full-Text PDF (87 KB)

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