Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor,Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy |
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| Authors: | Kornelia Neveling,Lilian A. Martinez-Carrera,Irmgard Hö lker,Angelien Heister,Aad Verrips,Seyyed Mohsen Hosseini-Barkooie,Christian Gilissen,Sascha Vermeer,Maartje Pennings,Rowdy Meijer,Margot te Riele,Catharina J.M. Frijns,Oksana Suchowersky,Linda MacLaren,Sabine Rudnik-Schö neborn,Richard J. Sinke,Klaus Zerres,R. Brian Lowry,Henny H. Lemmink,Lutz Garbes,Joris A. Veltman,Helenius J. Schelhaas,Hans Scheffer,Brunhilde Wirth |
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| Affiliation: | 1 Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands;2 Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands;3 Institute of Human Genetics, Institute for Genetics and Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany;4 Department of Pediatric Neurology, Canisius-Wilhelmina Hospital, 6532 SZ Nijmegen, the Netherlands;5 Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands;6 Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway;7 Department of Neurology, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands;8 Department of Neurology, University Medical Centre Utrecht, 3508 GA Utrecht, the Netherlands;9 Departments of Medicine (Neurology), Medical Genetics, and Psychiatry, University of Alberta, Edmonton Alberta T6G 2B7, Canada;10 Departments of Medical Genetics and Pediatrics, Alberta Children’s Hospital, University of Calgary, Calgary AB T2N 4N1, Canada;11 Institute of Human Genetics, University Aachen, 52057 Aachen, Germany;12 Department of Genetics, University of Groningen and University Medical Center Groningen, 9713 GZ Groningen, the Netherlands |
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