Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec.

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第一作者： Eduardo F,Tizzano

第一单位： Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Passeig de la Vall d'Hebron, 119-129, Horta-Guinardó, 08035, Barcelona, Spain. Electronic address: eduardo.tizzano@vallhebron.cat.

作者： Eduardo F,Tizzano ^[1] ; Susana,Quijano-Roy ^[2] ; Laurent,Servais ^[3] ; Julie A,Parsons ^[4] ; Sharon,Aharoni ^[5] ; Arpita,Lakhotia ^[6] ; Richard S,Finkel ^[7] ; RESTORE Study Group

作者单位： Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Passeig de la Vall d'Hebron, 119-129, Horta-Guinardó, 08035, Barcelona, Spain. Electronic address: eduardo.tizzano@vallhebron.cat. ^[1] Garches Neuromuscular Reference Center, APHP Raymond Poincaré University Hospital (UVSQ Paris Saclay), 104 Bd Raymond Poincaré, 92380, Garches, France. ^[2] Department of Paediatrics, MDUK Oxford Neuromuscular Centre, & NIHR Oxford Biomedical Research, University of Oxford, Headly Way, Headington, OX3 9DU, Oxford, UK; Department of Pediatrics, Neuromuscular Reference Center, University and University Hospital of Liège, Bât. B35 Département des Sciences Cliniques, Quartier Hôpital, Avenue de l'Hôpital 13, 4000, Liège, Belgium. ^[3] Children's Hospital Colorado, University of Colorado School of Medicine, 13001 East 17th Place, Aurora, CO, 80045, USA. ^[4] Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Kaplan St 14, Petah Tikva, Israel; Faculty of Medical and Health Sciences, Tel-Aviv University, Ramat Aviv, Tel Aviv, Israel. ^[5] University of Louisville, Norton Children's Medical Group, 411 East Chestnut Street, Floor 6, Louisville, KY, 40202, USA. ^[6] Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN, 38105, USA. ^[7]

关键词 Onasemnogene abeparvovec RESTORE registry Real-world data Spinal muscular atrophy Survival motor neuron 2 gene four SMN2 gene copies