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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

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Title: KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Authors: 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.; Faculté demédecine, Université de Montpellier, France., Demailly 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.; Faculté demédecine, Université de Montpellier, France., Lin JP; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK., Barwick KE; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., 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; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Malhotra S; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK., Chong WK; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK., Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK., Ngoh A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Trump N; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Vasques X; European IBM Systems Center, Montpellier, France., Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Allain MW; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA., Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Isfahani SA; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Baleine J; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France., Balint B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany., Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA., Baple EL; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK., Blanchet C; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France., Burglen L; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France., Cambonie G; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France., Seng EC; 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.; Faculté demédecine, Université de Montpellier, France., Bastaraud SC; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France., Cyprien F; 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.; Faculté demédecine, Université de Montpellier, France., Coubes C; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France., d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France., Doja A; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France., Doummar D; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France., Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Farrelly E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA., Fitzpatrick DR; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK., Fearon C; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland., Fieg EL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Forman EB; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland., Fox RG; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Gonzalez V; 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.; Faculté demédecine, Université de Montpellier, France., Graves TD; Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK., Gregory A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Hallett M; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hasegawa H; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK., Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Hully M; Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Jeong SY; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Krystal S; Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris., Kumar KR; Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia., Laurencin C; Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France., Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Lesca G; Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France., François LL; Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France., Lynch T; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Mahant N; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Milesi C; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France., Mills KA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Mondain M; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France., Morales-Briceno H; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Pal S; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India., Pallais JC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Pavillard F; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Perrigault PF; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Petersen AK; Randall Children's Hospital, Portland, OR, USA., Polo G; Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France., Poulen G; 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.; Faculté demédecine, Université de Montpellier, France., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Roujeau T; 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., Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Roubertie A; Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France., Sahagian M; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA., Schaefer E; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Selim L; Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt., Selway R; Department of Neurosurgery, King's College Hospital, London, UK., Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Soldatos AG; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA., Stewart F; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK., Tchan M; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Department of Genetics, Westmead Hospital, Westmead, NSW, Australia., Verma IC; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA., Wong DA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Zaitoun R; Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt., Zhen D; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Znaczko A; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK., Dale RC; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia., de Gusmão CM; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Friedman J; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Departments of Paediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia., King MD; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Mohammad SS; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia., Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA., Waugh JL; Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA., Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Topf M; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK., Coubes P; 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.; Faculté demédecine, Université de Montpellier, France., Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
Corporate Authors: Deciphering Developmental Disorders Study, Genomics England Research Consortium, NIHR BioResource, Undiagnosed Diseases Network
Source: ArXiv [ArXiv] 2025 Feb 10. Date of Electronic Publication: 2025 Feb 10.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39990802
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Cif+L%22">Cif L</searchLink>; 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.; Faculté demédecine, Université de Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Demailly+D%22">Demailly D</searchLink>; 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.; Faculté demédecine, Université de Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Lin+JP%22">Lin JP</searchLink>; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.<br /><searchLink fieldCode="AU" term="%22Barwick+KE%22">Barwick KE</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Sa+M%22">Sa M</searchLink>; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Abela+L%22">Abela L</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Malhotra+S%22">Malhotra S</searchLink>; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Chong+WK%22">Chong WK</searchLink>; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Steel+D%22">Steel D</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Sanchis-Juan+A%22">Sanchis-Juan A</searchLink>; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Ngoh+A%22">Ngoh A</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Trump+N%22">Trump N</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Meyer+E%22">Meyer E</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Vasques+X%22">Vasques X</searchLink>; European IBM Systems Center, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Rankin+J%22">Rankin J</searchLink>; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Allain+MW%22">Allain MW</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.<br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Isfahani+SA%22">Isfahani SA</searchLink>; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Baleine+J%22">Baleine J</searchLink>; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Balint+B%22">Balint B</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Bassetti+JA%22">Bassetti JA</searchLink>; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Baple+EL%22">Baple EL</searchLink>; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Bhatia+KP%22">Bhatia KP</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Blanchet+C%22">Blanchet C</searchLink>; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Burglen+L%22">Burglen L</searchLink>; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cambonie+G%22">Cambonie G</searchLink>; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Seng+EC%22">Seng EC</searchLink>; 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.; Faculté demédecine, Université de Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Bastaraud+SC%22">Bastaraud SC</searchLink>; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cyprien+F%22">Cyprien F</searchLink>; 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.; Faculté demédecine, Université de Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Coubes+C%22">Coubes C</searchLink>; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22d'Hardemare+V%22">d'Hardemare V</searchLink>; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.<br /><searchLink fieldCode="AU" term="%22Doja+A%22">Doja A</searchLink>; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dorison+N%22">Dorison N</searchLink>; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.<br /><searchLink fieldCode="AU" term="%22Doummar+D%22">Doummar D</searchLink>; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.<br /><searchLink fieldCode="AU" term="%22Dy-Hollins+ME%22">Dy-Hollins ME</searchLink>; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Farrelly+E%22">Farrelly E</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Fitzpatrick+DR%22">Fitzpatrick DR</searchLink>; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.<br /><searchLink fieldCode="AU" term="%22Fearon+C%22">Fearon C</searchLink>; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Fieg+EL%22">Fieg EL</searchLink>; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Fogel+BL%22">Fogel BL</searchLink>; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Forman+EB%22">Forman EB</searchLink>; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Fox+RG%22">Fox RG</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Galosi+S%22">Galosi S</searchLink>; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Gonzalez+V%22">Gonzalez V</searchLink>; 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.; Faculté demédecine, Université de Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Graves+TD%22">Graves TD</searchLink>; Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.<br /><searchLink fieldCode="AU" term="%22Gregory+A%22">Gregory A</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Hallett+M%22">Hallett M</searchLink>; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hasegawa+H%22">Hasegawa H</searchLink>; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.<br /><searchLink fieldCode="AU" term="%22Hayflick+SJ%22">Hayflick SJ</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Hamosh+A%22">Hamosh A</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hully+M%22">Hully M</searchLink>; Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Jansen+S%22">Jansen S</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jeong+SY%22">Jeong SY</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Krier+JB%22">Krier JB</searchLink>; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Krystal+S%22">Krystal S</searchLink>; Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Laurencin+C%22">Laurencin C</searchLink>; Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22François+LL%22">François LL</searchLink>; Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.<br /><searchLink fieldCode="AU" term="%22Lynch+T%22">Lynch T</searchLink>; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Mahant+N%22">Mahant N</searchLink>; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+JA%22">Martinez-Agosto JA</searchLink>; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Milesi+C%22">Milesi C</searchLink>; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Mills+KA%22">Mills KA</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mondain+M%22">Mondain M</searchLink>; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Morales-Briceno+H%22">Morales-Briceno H</searchLink>; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ostergaard+JR%22">Ostergaard JR</searchLink>; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Pal+S%22">Pal S</searchLink>; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Pallais+JC%22">Pallais JC</searchLink>; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pavillard+F%22">Pavillard F</searchLink>; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Perrigault+PF%22">Perrigault PF</searchLink>; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Petersen+AK%22">Petersen AK</searchLink>; Randall Children's Hospital, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Polo+G%22">Polo G</searchLink>; Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Poulen+G%22">Poulen G</searchLink>; 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.; Faculté demédecine, Université de Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Rinne+T%22">Rinne T</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Roujeau+T%22">Roujeau T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rogers+C%22">Rogers C</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Roubertie+A%22">Roubertie A</searchLink>; Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Sahagian+M%22">Sahagian M</searchLink>; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Schaefer+E%22">Schaefer E</searchLink>; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Selim+L%22">Selim L</searchLink>; Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Selway+R%22">Selway R</searchLink>; Department of Neurosurgery, King's College Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Sharma+N%22">Sharma N</searchLink>; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Signer+R%22">Signer R</searchLink>; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Soldatos+AG%22">Soldatos AG</searchLink>; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Stevenson+DA%22">Stevenson DA</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.<br /><searchLink fieldCode="AU" term="%22Stewart+F%22">Stewart F</searchLink>; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.<br /><searchLink fieldCode="AU" term="%22Tchan+M%22">Tchan M</searchLink>; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Department of Genetics, Westmead Hospital, Westmead, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Verma+IC%22">Verma IC</searchLink>; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wilson+JL%22">Wilson JL</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Wong+DA%22">Wong DA</searchLink>; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Zaitoun+R%22">Zaitoun R</searchLink>; Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zhen+D%22">Zhen D</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Znaczko+A%22">Znaczko A</searchLink>; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.<br /><searchLink fieldCode="AU" term="%22Dale+RC%22">Dale RC</searchLink>; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.<br /><searchLink fieldCode="AU" term="%22de+Gusmão+CM%22">de Gusmão CM</searchLink>; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+J%22">Friedman J</searchLink>; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Departments of Paediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Fung+VSC%22">Fung VSC</searchLink>; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22King+MD%22">King MD</searchLink>; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Mohammad+SS%22">Mohammad SS</searchLink>; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Rohena+L%22">Rohena L</searchLink>; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Waugh+JL%22">Waugh JL</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Toro+C%22">Toro C</searchLink>; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Raymond+FL%22">Raymond FL</searchLink>; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Topf+M%22">Topf M</searchLink>; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Coubes+P%22">Coubes P</searchLink>; 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.; Faculté demédecine, Université de Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Gorman+KM%22">Gorman KM</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Kurian+MA%22">Kurian MA</searchLink>; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
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  Data: <searchLink fieldCode="JN" term="%22101759493%22">ArXiv</searchLink> [ArXiv] 2025 Feb 10. <i>Date of Electronic Publication: </i>2025 Feb 10.
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      – TitleFull: KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
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            – D: 10
              M: 02
              Text: 2025 Feb 10
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2331-8422
          Titles:
            – TitleFull: ArXiv
              Type: main
ResultId 1