Autor: |
Di Gioia SA; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., Connors S; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Matsunami N; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Cannavino J; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA., Rose MF; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Medical Genetics Training Program, Harvard Medical School, Boston, Massachusetts 02115, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; Broad Institute of M.I.T. and Harvard, Cambridge, Massachusetts 02142, USA., Gilette NM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA., Artoni P; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., de Macena Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA., Chan WM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA., Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029, USA., Robson CD; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Radiology, Harvard Medical School, Boston, Massachusetts 02115, USA., Cheng L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Ramirez-Martinez A; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Leppert M; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Scholand MB; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Hartman T; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine, Hanover, New Hampshire 03755-1404, USA., Hayes IM; Genetic Health Services New Zealand, Auckland City Hospital, Auckland 1142, New Zealand., Morgan T; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Fagiolini M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., Swift A; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Chines PS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Speck-Martins CE; SARAH Network of Rehabilitation Hospitals, Brasilia 70335-901, Brazil., Collins FS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.; Office of the Director, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Jabs EW; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Olson EN; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA., Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Engle EC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.; Medical Genetics Training Program, Harvard Medical School, Boston, Massachusetts 02115, USA.; Broad Institute of M.I.T. and Harvard, Cambridge, Massachusetts 02142, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA.; Department Ophthalmology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02115, USA. |