Zobrazeno 1 - 10
of 25
pro vyhledávání: '"De Gusmao CM"'
Autor:
Roze E; Sorbonne University, INSERM, CNRS, Paris Brain Institute, AP-HP Salpêtrière Hospital, Paris, France., Silveira-Moriyama L; Neurology Department, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Teaching Unit, UCL Queen Square Institute of Neurology, London, UK., Leu-Semenescu S; Sleep Disorders Clinic, Pitié-Salpêtrière Hospital, APHP-Sorbonne University, National Reference Center for Orphan Diseases, Narcolepsy, Idiopathic Hypersomnia, and Kleine-Levin Syndrome; Paris Brain Institute (ICM), Inserm, CNRS, Paris, France., Villeneuve N; Assistance publique-Hôpitaux de Marseille, Reference Centre for Rare Epilepsies (member of the ERN network EPICARE), Marseille, France.; Pediatric Neurology Department, Assistance publique-Hôpitaux de Marseille, Marseille, France., Lecardonnel B; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France., François-Heude MC; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France., Meyer P; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France.; Phymedexp, Université de Montpellier, Inserm, CNRS, Montpellier, France., de Gusmao CM; Pediatric Neurology Department, University of São Paulo, Sao Paulo, Brazil.; Boston Children's Hospital, Boston, USA., Roubertie A; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France.; Institute for Neurosciences of Montpellier, INSERM U 1298, University of Montpellier, Montpellier, France.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Dec 02. Date of Electronic Publication: 2024 Dec 02.
Autor:
Azzoni AB; From the Departament of Child Neurology, Hospital das Clinicas da Faculdade de Medicina da USP, São Paulo, Brazil., Sakuma MT; From the Departament of Child Neurology, Hospital das Clinicas da Faculdade de Medicina da USP, São Paulo, Brazil., Sampaio LP; From the Departament of Child Neurology, Hospital das Clinicas da Faculdade de Medicina da USP, São Paulo, Brazil., De Gusmao CM; From the Departament of Child Neurology, Hospital das Clinicas da Faculdade de Medicina da USP, São Paulo, Brazil.
Publikováno v:
Neurology [Neurology] 2024 Apr 09; Vol. 102 (7), pp. e209313. Date of Electronic Publication: 2024 Mar 14.
Autor:
Stephen CD; Ataxia Center, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Cognitive Behavioral Neurology Unit, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., de Gusmao CM; Movement Disorders Division, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Department of Neurology, University of São Paulo, São Paulo, Brazil., Srinivasan SR; Movement Disorders Division, Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA., Olsen A; Movement Disorders Division, Department of Neurology, University of Pittsburgh and UPMC, Pittsburgh, Pennsylvania, USA., Freua F; Movement Disorders Division, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Kok F; Movement Disorders Division, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Montes Garcia Barbosa R; Movement Disorders Division, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Chen JYH; Neurogenetics Unit, Department of Neurology, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; C.S. Kubik Laboratory of Neuropathology, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Appleby BS; The National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, Ohio, USA., Prior T; The National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, Ohio, USA., Frosch MP; C.S. Kubik Laboratory of Neuropathology, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Schmahmann JD; Ataxia Center, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Cognitive Behavioral Neurology Unit, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Apr; Vol. 11 (4), pp. 411-423. Date of Electronic Publication: 2024 Jan 23.
Autor:
Ndayisaba A; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA.; Division of Clinical Neurobiology, Department of Neurology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria., Pitaro AT; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Willett AS; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Jones KA; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., de Gusmao CM; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Olsen AL; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Kim J; Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Rissanen E; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Woods JK; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Srinivasan SR; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA.; Department of Neurology, University of Michigan, Ann Arbo, MI, 48103, USA., Nagy A; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Nagy A; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Mesidor M; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Cicero S; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Patel V; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Oakley DH; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Tuncali I; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Taglieri-Noble K; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Clark EC; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Paulson J; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Krolewski RC; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Ho GP; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Hung AY; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Wills AM; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Hayes MT; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Macmore JP; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Warren L; Cellular Reprogramming, Inc, Pasadena, CA, USA., Bower PG; The Multiple System Atrophy Coalition, Inc, 7918 Jones Branch Drive, Suite 300, McLean, VA, 22102, USA., Langer CB; The Multiple System Atrophy Coalition, Inc, 7918 Jones Branch Drive, Suite 300, McLean, VA, 22102, USA., Kellerman LR; The Multiple System Atrophy Coalition, Inc, 7918 Jones Branch Drive, Suite 300, McLean, VA, 22102, USA., Humphreys CW; Department of Pulmonary, Sleep and Critical Care Medicine, Salem Hospital, MassGeneral Brigham, Salem, MA, 01970, USA., Glanz BI; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Dielubanza EJ; Department of Urology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Frosch MP; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Freeman RL; Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, 02115, USA., Gibbons CH; Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, 02115, USA., Stefanova N; Division of Clinical Neurobiology, Department of Neurology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria., Chitnis T; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Weiner HL; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Scherzer CR; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Scholz SW; Laboratory of Neurogenetics, Disorders and Stroke, National Institute of Neurological, National Institute of Neurological Disorders and Stroke, Bethesda, MD, 20892, USA.; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, 21287, USA., Vuzman D; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, 02115, USA., Cox LM; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Wenning G; Division of Clinical Neurobiology, Department of Neurology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria., Schmahmann JD; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Gupta AS; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Novak P; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Young GS; Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Feany MB; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Singhal T; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Khurana V; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA. vkhurana@bwh.harvard.edu.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Feb; Vol. 23 (1), pp. 52-53.
Autor:
Ndayisaba A; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA.; Division of Clinical Neurobiology, Department of Neurology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria., Pitaro AT; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Willett AS; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Jones KA; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., de Gusmao CM; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Olsen AL; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Kim J; Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Rissanen E; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Woods JK; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Srinivasan SR; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA.; Department of Neurology, University of Michigan, Ann Arbor, MI , 48103, USA., Nagy A; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Nagy A; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Mesidor M; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Cicero S; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Patel V; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Oakley DH; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Tuncali I; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Taglieri-Noble K; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Clark EC; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Paulson J; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Krolewski RC; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Ho GP; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Hung AY; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Wills AM; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Hayes MT; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Macmore JP; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Warren L; Cellular Reprogramming, Inc., Pasadena, CA, USA., Bower PG; The Multiple System Atrophy Coalition, Inc., 7918 Jones Branch Drive, Suite 300, McLean, VA, 22102, USA., Langer CB; The Multiple System Atrophy Coalition, Inc., 7918 Jones Branch Drive, Suite 300, McLean, VA, 22102, USA., Kellerman LR; The Multiple System Atrophy Coalition, Inc., 7918 Jones Branch Drive, Suite 300, McLean, VA, 22102, USA., Humphreys CW; Department of Pulmonary, Sleep and Critical Care Medicine, Salem Hospital, MassGeneral Brigham, Salem, MA, 01970, USA., Glanz BI; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Dielubanza EJ; Department of Urology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Frosch MP; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Freeman RL; Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, 02115, USA., Gibbons CH; Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, 02115, USA., Stefanova N; Division of Clinical Neurobiology, Department of Neurology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria., Chitnis T; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Weiner HL; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Scherzer CR; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Scholz SW; Laboratory of Neurogenetics, Disorders and Stroke, National Institute of Neurological, National Institute of Neurological Disorders and Stroke, Bethesda, MD, 20892, USA.; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, 21287, USA., Vuzman D; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, 02115, USA., Cox LM; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Wenning G; Division of Clinical Neurobiology, Department of Neurology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria., Schmahmann JD; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Gupta AS; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Novak P; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Young GS; Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Feany MB; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Singhal T; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA., Khurana V; Department of Neurology, Building for Transformative Medicine Room 10016L, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, 02115, USA. vkhurana@bwh.harvard.edu.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Feb; Vol. 23 (1), pp. 31-51. Date of Electronic Publication: 2022 Oct 03.
Autor:
Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Duque Lasio ML; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Magistrati M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Pathak S; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA., Sample B; HSHS St. Vincent Hospital, Green Bay, WI, USA., Carvalho DR; SARAH Network Rehabilitation Hospitals, Genetic Unit, Brasilia, Federal District, Brazil., Ortega AB; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Castro MAA; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., de Gusmao CM; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., Toler TL; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Bellacchio E; Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy. Electronic address: cristina.dallabona@unipr.it., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Aug; Vol. 139 (4), pp. 107630. Date of Electronic Publication: 2023 Jun 22.
Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.
Autor:
de Gusmao CM; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK. claudio.degusmao@childrens.harvard.edu., Peixoto de Barcelos I; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK., Pinto ALR; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK., Silveira-Moriyama L; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK.
Publikováno v:
Neurology [Neurology] 2023 Jul 04; Vol. 101 (1), pp. 46-49. Date of Electronic Publication: 2023 Feb 20.
Autor:
Kim J; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; Biomedical Research Center, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; KI for Health Science and Technology, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; Center for Epidemic Preparedness, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr., Woo S; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea., de Gusmao CM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Postgraduate School of Medical Science, University of Campinas (UNICAMP), São Paulo, Brazil., Zhao B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Chin DH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., DiDonato RL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Nguyen MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Nakayama T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Hu CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Kuniholm A; Institutional Center for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Thornton JK; Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA., Riccardi O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Friedman DA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., El Achkar CM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Dash Z; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Cornelissen L; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Donado C; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Bush LW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Center for Bioethics, Harvard Medical School, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lentucci C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Lee EA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Patterson A; Harvard Medical School, Boston, MA, USA.; Department of Pharmacy, Boston Children's Hospital, Boston, MA, USA., Philippakis AA; Eric and Wendy Schmidt Center, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Margus B; Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA., Berde CB; Harvard Medical School, Boston, MA, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. timothy.yu@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
Publikováno v:
Nature [Nature] 2023 Jul; Vol. 619 (7971), pp. 828-836. Date of Electronic Publication: 2023 Jul 12.
Autor:
Menon PJ; Sorbonne University, APHP-Salpêtrière Hospital, CNRS, INSERM, Paris Brain Institute Paris France.; School of Postgraduate Studies Royal College of Surgeons in Ireland Dublin Ireland., Nilles C; Department of Clinical Neurosciences University of Calgary Calgary AB Canada., Silveira-Moriyama L; Department of Neurology University of Campinas (UNICAMP) Campinas Brazil., Yuan R; Sorbonne University, APHP-Salpêtrière Hospital, CNRS, INSERM, Paris Brain Institute Paris France., de Gusmao CM; Department of Neurology University of Campinas (UNICAMP) Campinas Brazil.; Boston Children's Hospital Boston MA USA., Münchau A; Institute of Systems Motor Science University of Lübeck Lübeck Germany., Carecchio M; Center for the Study of Neurodegeneration (CESNE) and Department of Neuroscience University of Padua Padua Italy., Grossman S; ADCY5.org San Diego CA USA., Grossman G; ADCY5.org San Diego CA USA., Méneret A; Sorbonne University, APHP-Salpêtrière Hospital, CNRS, INSERM, Paris Brain Institute Paris France., Roze E; Sorbonne University, APHP-Salpêtrière Hospital, CNRS, INSERM, Paris Brain Institute Paris France., Pringsheim T; Department of Clinical Neurosciences University of Calgary Calgary AB Canada.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2023 Jun 06; Vol. 10 (7), pp. 1048-1059. Date of Electronic Publication: 2023 Jun 06 (Print Publication: 2023).
Autor:
de Gusmao CM; From the Department of Neurology (C.M.G.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.G., L.S.-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo; Hospital Nossa Senhora do Rosário (L.G.), São Paulo; Hospital Sirio-Libanes (L.M.I.), São Paulo, Brazil; and Education Unit (L.S.-M.), UCL Institute of Neurology, University College London, United Kingdom. claudio.degusmao@childrens.harvard.edu., Garcia L; From the Department of Neurology (C.M.G.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.G., L.S.-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo; Hospital Nossa Senhora do Rosário (L.G.), São Paulo; Hospital Sirio-Libanes (L.M.I.), São Paulo, Brazil; and Education Unit (L.S.-M.), UCL Institute of Neurology, University College London, United Kingdom., Inuzuka LM; From the Department of Neurology (C.M.G.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.G., L.S.-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo; Hospital Nossa Senhora do Rosário (L.G.), São Paulo; Hospital Sirio-Libanes (L.M.I.), São Paulo, Brazil; and Education Unit (L.S.-M.), UCL Institute of Neurology, University College London, United Kingdom., Silveira-Moriyama L; From the Department of Neurology (C.M.G.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.G., L.S.-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo; Hospital Nossa Senhora do Rosário (L.G.), São Paulo; Hospital Sirio-Libanes (L.M.I.), São Paulo, Brazil; and Education Unit (L.S.-M.), UCL Institute of Neurology, University College London, United Kingdom.
Publikováno v:
Neurology [Neurology] 2022 Nov 29; Vol. 99 (22), pp. 1010-1011. Date of Electronic Publication: 2022 Sep 20.