Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct,X-Linked Dominant Form of NBIA |
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| Authors: | Tobias B. Haack,Penelope Hogarth,Michael C. Kruer,Allison Gregory,Thomas Wieland,Thomas Schwarzmayr,Elisabeth Graf,Lynn Sanford,Esther Meyer,Eleanna Kara,Stephan M. Cuno,Sami I. Harik,Vasuki H. Dandu,Nardo Nardocci,Giovanna Zorzi,Todd Dunaway,Mark Tarnopolsky,Steven Skinner,Steven Frucht,Era Hanspal,Connie Schrander-Stumpel,Delphine Hé ron,Cyril Mignot,Barbara Garavaglia,Kailash Bhatia,John Hardy,Tim M. Strom,Nathalie Boddaert,Henry H. Houlden,Manju A. Kurian,Thomas Meitinger,Holger Prokisch,Susan J. Hayflick |
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| Affiliation: | 1 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany;2 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany;3 Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA;4 Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA;5 Sanford Children’s Health Research Center, Sioux Falls, SD 57104, USA;6 Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK;7 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, UK;8 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK;9 Reta Lilla Weston Laboratories, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK;10 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA;11 Unit of Child Neurology, Department of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy;12 Private practice, Tulsa, OK 74104, USA;13 Division of Neuromuscular and Neurometabolic Disorders, Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada;14 Greenwood Genetic Center, Greenwood, SC 29646, USA;15 Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029, USA;16 Parkinson’s Disease and Movement Disorders Center, Albany Medical Center, Albany, NY 12208, USA;17 Department of Neurology, Albany Medical College, Albany, NY 12208, USA;18 Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg, 6229 GT Maastricht, Netherlands;19 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France;20 Unit of Molecular Neurogenetics, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy;21 Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK;22 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France;23 Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA |
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