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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer, Esther; Carss, Keren J; Rankin, Julia; Nichols, John M E; Grozeva, Detelina; Joseph, Agnel P; Mencacci, Niccolo E; Papandreou, Apostolos; Ng, Joanne; Barral, Serena; Ngoh, Adeline; Ben-Pazi, Hilla; Willemsen, Michel A; Arkadir, David; Barnicoat, Angela; Bergman, Hagai; Bhate, Sanjay; Boys, Amber; Darin, Niklas; Foulds, Nicola; Gutowski, Nicholas; Hills, Alison; Houlden, Henry; Hurst, Jane A; Israel, Zvi; Kaminska, Margaret; Limousin, Patricia; Lumsden, Daniel; McKee, Shane; Misra, Shibalik; Mohammed, Shekeeb S; Nakou, Vasiliki; Nicolai, Joost; Nilsson, Magnus; Pall, Hardev; Peall, Kathryn J; Peters, Gregory B; Prabhakar, Prab; Reuter, Miriam S; Rump, Patrick; Segel, Reeval; Sinnema, Margje; Smith, Martin; Turnpenny, Peter; White, Susan M; Wieczorek, Dagmar; Wiethoff, Sarah; Wilson, Brian T; Winter, Gidon; Wragg, Christopher.
Afiliación
  • Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.
  • Carss KJ; Department of Hematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK.
  • Rankin J; NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
  • Nichols JM; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Grozeva D; MRC Laboratory for Molecular Cell Biology and Department of Cell and Developmental Biology, University College London, London, UK.
  • Joseph AP; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Mencacci NE; Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, London, UK.
  • Papandreou A; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Ng J; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.
  • Barral S; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Ngoh A; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.
  • Ben-Pazi H; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Willemsen MA; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.
  • Arkadir D; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.
  • Barnicoat A; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Bergman H; Pediatric Neurology and Development, Shaare-Zedek Hospital, Jerusalem, Israel.
  • Bhate S; Department of Paediatric Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Boys A; Department of Neurology, Hadassah Medical Center and Hebrew University, Jerusalem, Israel.
  • Darin N; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • Foulds N; Department of Neurobiology and Neurosurgery, Hebrew University, Hadassah Medical Centre, Jerusalem, Israel.
  • Gutowski N; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Hills A; Victoria Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Houlden H; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Hurst JA; Department of Clinical Genetics, Southampton General Hospital, Southampton, UK.
  • Israel Z; Department of Neurology, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Kaminska M; Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, Bristol, UK.
  • Limousin P; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Lumsden D; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • McKee S; Functional and Restorative Neurosurgery, Hadassah University Hospital, Jerusalem, Israel.
  • Misra S; Complex Motor Disorders Service, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Mohammed SS; Sobell Department, National Hospital for Neurology and Neurosurgery, London, UK.
  • Nakou V; Complex Motor Disorders Service, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Nicolai J; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
  • Nilsson M; Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
  • Pall H; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.
  • Peall KJ; Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
  • Peters GB; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.
  • Prabhakar P; Complex Motor Disorders Service, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Reuter MS; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Rump P; Department of Pediatrics, Piteå Hospital and Umeå University Hospital, Umeå, Sweden.
  • Segel R; College of Medicine and Dental Studies, University of Birmingham, Birmingham, UK.
  • Sinnema M; Neuroscience and Mental Health Research Institute, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
  • Smith M; Department of Cytogenetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Turnpenny P; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • White SM; Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Wieczorek D; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Wiethoff S; Medical Genetics Institute and Pediatrics, Shaare-Zedek Medical Center and Hebrew University School of Medicine, Jerusalem, Israel.
  • Wilson BT; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, the Netherlands.
  • Winter G; Department of Pediatric Neurology, John Radcliffe Hospital, Oxford, UK.
  • Wragg C; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Nat Genet ; 49(2): 223-237, 2017 Feb.
Article en En | MEDLINE | ID: mdl-27992417
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: N-Metiltransferasa de Histona-Lisina / Distonía / Mutación Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: N-Metiltransferasa de Histona-Lisina / Distonía / Mutación Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido