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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J.
Afiliación
  • Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
  • Demailly D; Faculté de médecine, Université de Montpellier, France.
  • Lin JP; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
  • Barwick KE; Faculté de médecine, Université de Montpellier, France.
  • Sa M; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Abela L; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.
  • Malhotra S; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Chong WK; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Sanchis-Juan A; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.
  • Ngoh A; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Trump N; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Meyer E; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Vasques X; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Rankin J; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.
  • Allain MW; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Applegate CD; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Attaripour Isfahani S; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Baleine J; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Balint B; European IBM Systems Center, Montpellier, France.
  • Bassetti JA; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Baple EL; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.
  • Bhatia KP; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Blanchet C; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Burglen L; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.
  • Cambonie G; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
  • Seng EC; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.
  • Bastaraud SC; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.
  • Cyprien F; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Coubes C; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • d'Hardemare V; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
  • Doja A; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.
  • Dorison N; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.
  • Doummar D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
  • Dy-Hollins ME; Faculté de médecine, Université de Montpellier, France.
  • Farrelly E; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.
  • Fitzpatrick DR; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
  • Fearon C; Faculté de médecine, Université de Montpellier, France.
  • Fieg EL; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.
  • Fogel BL; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.
  • Fox RG; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Gahl WA; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.
  • Galosi S; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
  • Gonzalez V; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • Graves TD; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.
  • Gregory A; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.
  • Hallett M; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.
  • Hasegawa H; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
  • Hayflick SJ; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Brain ; 143(11): 3242-3261, 2020 12 05.
Article en En | MEDLINE | ID: mdl-33150406
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: N-Metiltransferasa de Histona-Lisina / Trastornos Distónicos Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Aspecto: Patient_preference Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: N-Metiltransferasa de Histona-Lisina / Trastornos Distónicos Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Aspecto: Patient_preference Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Francia