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14 p, 1.5 MB The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders / Pérez-Dueñas, Belén (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Gorman, Kathleen. (Great Ormond Street Hospital for Children (Londres)) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ortigoza-Escobar, Juan D. (Hospital Sant Joan de Déu (Manresa)) ; Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Danti, Federica R. (Unit of Child Neurology and Psychiatry. Department of Human Neuroscience. Sapienza University of Rome) ; Barwick, Katy (Developmental Neurosciences Programme. Great Ormond Street-Institute of Child Health. University College London) ; Papandreou, Apostolos (Great Ormond Street Hospital for Children (Londres)) ; Ng, Joanne (Gene Transfer Technology Group. Institute for Women's Health. University College London) ; Meyer, Esther (Developmental Neurosciences Programme. Great Ormond Street-Institute of Child Health. University College London) ; Mohammad, Shekeeb S. (Kids Neuroscience Centre and Brain and Mind Centre. Faculty of Medicine and Health. University of Sydney) ; Smith, Martin (Department of Pediatric Neurology. John Radcliffe Hospital) ; Muntoni, Francesco (Great Ormond Street Hospital for Children (Londres)) ; Munot, Pinki (Great Ormond Street Hospital for Children (Londres)) ; Uusimaa, Johanna (PEDEGO Research Unit. Department of Children and Adolescents. Medical Research Center Oulu. Oulu University Hospital. University of Oulu) ; Vieira, Päivi (PEDEGO Research Unit. Department of Children and Adolescents. Medical Research Center Oulu. Oulu University Hospital. University of Oulu) ; Sheridan, Eammon (School of Medicine. St James's University Hospital. University of Leeds) ; Guerrini, Renzo (Pediatric Neurology. Neurogenetics and Neurobiology Unit and Laboratories. Neuroscience Department. A. Meyer Children's Hospital. University of Florence) ; Cobben, Jan (North West Thames Regional Genetic Service. Northwick Park Hospital) ; Yilmaz, Sanem (Department of Pediatrics. Division of Child Neurology. Ege University Medical Faculty) ; De Grandis, Elisa (Child Neuropsychiatry Unit. Istituto Giannina Gaslini. Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics and Maternal and Children's Sciences. University of Genoa) ; Dale, Russell C.. (Institute for Neuroscience and Muscle Research. Children's Hospital at Westmead. University of Sydney) ; Pons, Roser (First Department of Pediatrics. Agia Sofia Children's Hospital. National and Kapodistrian University of Athens) ; Peall, Kathryn J. (Neuroscience and Mental Health Research Institute. Institute of Psychological Medicine and Clinical Neurosciences. School of Medicine. Cardiff University) ; Leuzzi, Vincenzo (Unit of Child Neurology and Psychiatry. Department of Human Neuroscience. Sapienza University of Rome) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres))
Background and Objective: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. [...]
2022 - 10.1002/mds.29182
Movement Disorders, 2022  
Detailed record - Creative Commons

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