首页> Neuromuscular disorders : NMD> The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy.

The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy.

导出 LinkOut

翻译打印收藏纠错

第一作者： C Simone,Sutherland

第一单位： Global Access, F. Hoffmann-La Roche Ltd, Basel, Switzerland. Electronic address: simone.sutherland@roche.com.

作者： C Simone,Sutherland ^[1] ; Sophie,Schneider ^[2] ; Valerie Aponte,Ribero ^[3] ; Alex,Simpson ^[3] ; Christos,Kokaliaris ^[4] ; Renata S,Scalco ^[5] ; Carol Jean,Guittari ^[6] ; Ksenija,Gorni ^[7] ; Darryl C,De Vivo ^[8] ; William B,Martens ^[9] ; Teresa M,Karrer ^[2]

作者单位： Global Access, F. Hoffmann-La Roche Ltd, Basel, Switzerland. Electronic address: simone.sutherland@roche.com. ^[1] Pharma Personalized Healthcare, F. Hoffmann-La Roche Ltd, Basel, Switzerland. ^[2] Global Access, F. Hoffmann-La Roche Ltd, Basel, Switzerland. ^[3] Global Access, F. Hoffmann-La Roche Ltd, Basel, Switzerland; Department of Epidemiology and Public Health, Swiss Tropical and Public Health Institute, Basel, Switzerland; University of Basel, Basel, Switzerland. ^[4] Pharma Development Neurology, F. Hoffmann-La Roche Ltd, Basel, Switzerland. ^[5] PDMA Neuroscience and Rare Disease, Genentech, Inc., South San Francisco, CA, USA. ^[6] PDMA Neuroscience and Rare Disease, F. Hoffmann-La Roche Ltd, Basel, Switzerland. ^[7] Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. ^[8] Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. ^[9]

关键词 Natural history Outcomes Rare genetic disease SMA SMN2 copy number Spinal muscular atrophy