Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy - 20/12/18
Doi : 10.1016/j.jpeds.2018.10.043
Annemieke Aartsma-Rus, PhD 1, Madhuri Hegde, PhD, FACMG 2, Tawfeg Ben-Omran, MD, FRCPS, FCCMG, FACMG 3, Filippo Buccella, PharmD 4, Alessandra Ferlini, MD, PhD 5, Pia Gallano, PhD 6, R. Rodney Howell, MD 7, France Leturcq, PharmD 8, Ann S. Martin, MS, CGC 9, Anna Potulska-Chromik, MD, PhD 10, Jonas A. Saute, MD, PhD 11, Wolfgang M. Schmidt, PhD 12, Thomas Sejersen, MD, PhD 13, Sylvie Tuffery-Giraud, PhD 14, Zehra Oya Uyguner, PhD 15, Luci A. Witcomb, PhD 16, Shu Yau, PhD, FRCPath 17, Stanley F. Nelson, MD 18, * 
1 Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
2 Department of Human Genetics, Emory University School of Medicine/School of Biological Sciences, Georgia Institute of Technology/Perkin Elmer Genetics, Atlanta, GA
3 Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar
4 Duchenne Parent Project Italy, Rome, Italy
5 Unit of Medical Genetics, University of Ferrara, Ferrara, Italy
6 U705 CIBERER, Servei de Genetica, Hospital de Sant Pau, Barcelona, Spain
7 Miller School of Medicine, University of Miami, Miami, FL
8 Department of Genetics and Molecular Biology, Hospitalier Universitaire Paris Centre, Cochin Hospital, Paris, France
9 Parent Project Muscular Dystrophy, Hackensack, NJ
10 Department of Neurology, Medical University of Warsaw, Warsaw, Poland
11 Medical Genetics and Neurology Services, Hospital de Clinicas de Porto Alegre/Internal Medicine Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
12 Neuromuscular Research Department, Medical University of Vienna, Vienna, Austria
13 Department of Women's and Children's Health, Karolinska Institute/Astrid Lindgrens Barnsjukhus, Karolinska University Hospital, Stockholm, Sweden
14 Laboratory of Rare Genetic Diseases (LGMR), University of Montpellier, Montpellier, France
15 Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
16 PharmaGenesis London, London, United Kingdom
17 Viapath Analytics, Guy's Hospital, London, United Kingdom
18 Department of Human Genetics, University of California, Los Angeles, CA
*Reprint requests: Stanley F. Nelson, MD, Department of Human Genetics, University of California, Box 957088, 5506A Gonda Center, Los Angeles, CA 90095.Department of Human GeneticsUniversity of CaliforniaBox 9570885506A Gonda CenterLos AngelesCA90095
Abbreviations : BMD, CK, DMD, MLPA, NBS, NGS
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The Authors. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 204
P. 305 - janvier 2019 Retour au numéro
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