Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

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作者： Janneke C,van den Bergen ^[1] ; Monika,Hiller ^[2] ; Stefan,Böhringer ^[3] ; Linda,Vijfhuizen ^[4] ; Hendrika B,Ginjaar ^[4] ; Amina,Chaouch ^[5] ; Kate,Bushby ^[5] ; Volker,Straub ^[5] ; Mariacristina,Scoto ^[6] ; Sebahattin,Cirak ^[7] ; Véronique,Humbertclaude ^[8] ; Mireille,Claustres ^[8] ; Chiara,Scotton ^[9] ; Chiara,Passarelli ^[10] ; Hanns,Lochmüller ^[5] ; Francesco,Muntoni ^[6] ; Sylvie,Tuffery-Giraud ^[8] ; Alessandra,Ferlini ^[9] ; Annemieke M,Aartsma-Rus ^[2] ; Jan J G M,Verschuuren ^[1] ; Peter Ac,'t Hoen ^[2] ; Pietro,Spitali ^[2]

作者单位： Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. ^[1] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. ^[2] Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands. ^[3] Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. ^[4] Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK. ^[5] Dubowitz Neuromuscular Centre, University College London, London, UK. ^[6] Dubowitz Neuromuscular Centre, University College London, London, UK Children's National Medical Center, Research Center for Genetic Medicine, Washington DC, USA. ^[7] Laboratoire de Génétique de Maladies Rares, CHU Montpellier, Université Montpellier 1, UFR Médecine, and Inserm U827, Montpellier, France. ^[8] Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Ferrara, Italy. ^[9] Paediatric Hospital Bambino Gesù, Rome, Italy. ^[10]

关键词 DYSTROPHIN GENETICS MUSCLE DISEASE MUSCULAR DYSTROPHY NEUROMUSCULAR