المؤلفون: Dy-Hollins ME; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Hall DA; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Cahill CM; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Meyer AL; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Peltier AC; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Ostendorf T; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Rheaume CE; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Keran CM; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond., Goldman MD; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond.

مؤلفون مشاركون: AAN Clinical Research Subcommittee; From the Department of Neurology (M.E.D.-H.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurological Sciences (D.A.H.), Rush University, Chicago, IL; Member Insights Department (C.M.C., T.O., C.E.R., C.M.K.), American Academy of Neurology, Minneapolis, MN; Former Member of the AAN Clinical Research Subcommittee (A.-C.L.M.), Denali Therapeutics, San Francisco, CA; Department of Neurology and Medicine (A.C.P.), Vanderbilt University Medical Center, Nashville, TN; and Department of Neurology (M.D.G.), Virginia Commonwealth University, Richmond.

المصدر: Neurology [Neurology] 2024 Jul 09; Vol. 103 (1), pp. e209392. Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Neurology* , Sexism* , Qualitative Research*, Humans ; Female ; Male ; Adult ; Physicians, Women ; Mentors ; Neurologists ; Middle Aged ; Faculty, Medical

المؤلفون: Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address: mdyhollins@mgb.org., Carr SJ; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Essa A; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Osiecki L; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Lackland DT; Department of Neurology, Medical University of South Carolina, Charleston, South Carolina., Voeks JH; Department of Neurology, Medical University of South Carolina, Charleston, South Carolina., Mejia NI; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Sharma N; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Budman CL; Department of Psychiatry, Northwell, New York, New York., Cath DC; Department of Psychiatry, University Medical Center Groningen, Rijks Universiteit Groningen, and Drenthe Mental Health Institute, Groningen, Netherlands., Grados MA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland., King RA; Yale Child Study Center, Yale School of Medicine, New Haven, Connecticut., Lyon GJ; George A. Jervis Clinic and Institute for Basic Research in Developmental Disabilities, Staten Island, New York., Rouleau GA; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University Health Center, Montreal, Canada., Sandor P; Department of Psychiatry, University Health Network, University of Toronto, Toronto, Ontario, Canada., Singer HS; Departments of Pediatrics and Neurology, Johns Hopkins Hospital, Kennedy Krieger Institute, Baltimore, Maryland., Chibnik LB; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts., Mathews CA; Department of Psychiatry, Center for OCD, Anxiety and Related Disorders, University of Florida, Gainsville, Florida., Scharf JM; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Jun; Vol. 155, pp. 55-61. Date of Electronic Publication: 2024 Mar 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Tourette Syndrome* , Social Determinants of Health*, Humans ; Male ; Female ; Adolescent ; Child ; Young Adult ; Child, Preschool ; Educational Status ; Adult ; Parents ; United States ; Ethnicity

المؤلفون: Armstrong-Javors A; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts. Electronic address: aarmstrong-javors@mgb.org., Realbuto E; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; Department of Clinical Psychology, Kent State University, Kent, Ohio., Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts., Scharf JM; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Jun; Vol. 155, pp. 182-186. Date of Electronic Publication: 2024 Apr 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19*/epidemiology , Sexual and Gender Minorities*/statistics & numerical data , Tic Disorders*/epidemiology, Humans ; Adolescent ; Female ; Male ; Retrospective Studies ; Child ; Cross-Sectional Studies ; Young Adult ; Adult ; Sexual Behavior ; Prevalence ; Gender Identity ; Massachusetts/epidemiology

المؤلفون: Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Kuseyri Hübschmann O; Division of Child Neurology and Metabolic Disorders, University Children's Hospital Heidelberg, Heidelberg, Germany., Akgöz Karaosmanoğlu A; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Manti F; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Karaca M; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Schwartz IVD; Department of Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Pons R; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain., Palacios NAJ; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Porta F; Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy., Kavecan I; Faculty of Medicine, University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina, Novi Sad, Serbia., Balcı MC; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong SAR, China., Oppebøen M; Division of Child Neurology, Children's Department, Oslo University Hospital, Rikshospitalet, Oslo, Norway., Medeiros LS; Department of Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., de Paula LCP; Department of Endocrinology, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., García-Cazorla A; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Hoffmann GF; Division of Child Neurology and Metabolic Disorders, University Children's Hospital Heidelberg, Heidelberg, Germany., Jeltsch K; Division of Child Neurology and Metabolic Disorders, University Children's Hospital Heidelberg, Heidelberg, Germany., Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Gökçay G; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Hübschmann D; Computational Oncology Group, Molecular Precision Oncology Program, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany., Özön ZA; Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Sivri S; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Opladen T; Division of Child Neurology and Metabolic Disorders, University Children's Hospital Heidelberg, Heidelberg, Germany.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 431-446. Date of Electronic Publication: 2023 Jul 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Hyperprolactinemia*/drug therapy , Levodopa*/therapeutic use , Pituitary Gland*/metabolism , Pituitary Gland*/pathology , Pituitary Gland*/diagnostic imaging , Pituitary Gland*/drug effects , Biogenic Amines*/metabolism , Magnetic Resonance Imaging* , Dopamine Agonists*/therapeutic use, Humans ; Female ; Male ; Adolescent ; Child ; Adult ; Young Adult ; Child, Preschool ; Cabergoline/therapeutic use ; Drug Resistance ; Prolactin/blood ; Pituitary Neoplasms/drug therapy

المؤلفون: Dy-Hollins ME, Chibnik LB, Tracy NA, Osiecki L, Budman CL, Cath DC, Grados MA, King RA, Gholson L, Rouleau GA, Sandor P, Singer HS, Sharma N, Mathews CA, Scharf J

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 09. Date of Electronic Publication: 2024 Jan 09.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: 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 de médecine, 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 de médecine, 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., Attaripour Isfahani S; 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 de médecine, 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 de médecine, 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 de médecine, 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 de médecine, 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; 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مؤلفون مشاركون: Deciphering Developmental Disorders Study, Genomics England Research Consortium, NIHR BioResource, Undiagnosed Diseases Network

المصدر: Brain : a journal of neurology [Brain] 2020 Dec 05; Vol. 143 (11), pp. 3242-3261.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Dystonic Disorders/*genetics , Histone-Lysine N-Methyltransferase/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Deletion ; Cohort Studies ; Computer Simulation ; Deep Brain Stimulation ; Disease Progression ; Dystonic Disorders/therapy ; Endocrine System Diseases/complications ; Endocrine System Diseases/genetics ; Female ; Fetal Growth Retardation/genetics ; Gait Disorders, Neurologic/etiology ; Gait Disorders, Neurologic/therapy ; Humans ; Laryngeal Diseases/etiology ; Laryngeal Diseases/therapy ; Male ; Mutation ; Mutation, Missense ; Phenotype ; Quality of Life ; Treatment Outcome ; Young Adult