학술논문
'학술논문'
에서 검색결과 178건 | 목록
1~10
Academic Journal
Belousova, Elena; Belyaev, Oleg; Ben-Zeev, Bruria; Brunklaus, Andreas; Ciliberto, Michael A.; Darra, Francesca; Davis, Ronald; De Giorgis, Valentina; Doronina, Olga; Fahey, Michael; Guerrini, Renzo; Heydemann, Peter; Khaletskaya, Olga; Lisewski, Pawel; Marsh, Eric D.; Moosa, Ahsan N.; Perry, Scott; Philip, Sunny; Rajaraman, Rajsekar R.; Renfroe, Ben; Saneto, Russell P.; Scheffer, Ingrid E.; Sogawa, Yoshimi; Suter, Bernhardt; Sweney, Matthew T.; Tarquinio, Daniel; Veggiotti, Pierangelo; Wallace, Geoff; Weisenberg, Judy; Wilfong, Angus; Wirrell, Elaine C.; Zafar, Muhammad; Zolnowska, Marta; Knight, Elia M Pestana ; Amin, Sam; Bahi-Buisson, Nadia; Benke, Tim A; Cross, J Helen; Demarest, Scott T; Olson, Heather E; Specchio, Nicola; Fleming, Thomas R; Aimetti, Alex A; Gasior, Maciej; Devinsky, Orrin
In The Lancet Neurology May 2022 21(5):417-427
Academic Journal
Liu, Hengrui; Forouhar, Farhad; Seibt, Tobias; Saneto, Russell; Wigby, Kristen; Friedman, Jennifer; Xia, Xin; Shchepinov, Mikhail S.; Ramesh, Sanath Kumar; Conrad, Marcus; Stockwell, Brent R.
Nature Chemical Biology. 18(1):91-100
Academic Journal
Cuccurullo C; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.; Neurology and Stroke Unit, Ospedale del Mare Hospital, Naples, Italy.; Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Ugga L; Department of Advanced Biomedical Sciences, University Federico II, Naples, Italy.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.; D'Amico A; Department of Radiology, 'Tortorella' private hospital, Salerno, Italy.; Cabet S; Pediatric and Fetal Imaging, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France.; Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.; Bilo L; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.; Iliescu C; Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania.; Barca D; Department of Pediatric Neurology, Expertise Center for Rare Diseases in Pediatric Neurology, member of the EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, Bucharest, Romania.; Fung F; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.; Helbig K; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.; Ortiz-Gonzalez X; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.; Schelhaas HJ; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Linden I; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands.; Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Courage C; Folkhälsan Research Center, Helsinki, Finland.; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy.; Gommaraschi S; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy.; Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA.; Bardakjian T; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA.; Syrbe S; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Schuler E; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Vari S; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy.; Roende G; Department of Pediatrics and Adolescent Medicine, University Hospital Rigshopitalet, Copenhagen, Denmark.; Bak M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Huq M; Department of Pediatrics, Wayne State University, Detroit, Michigan, USA.; Powis Z; Ambry Genetics, Department of Emerging Genetic Medicine, CGC 15 Argonaut, Aliso Viejo, California, USA.; Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA.; Zupanc ML; Children's Health of Orange County, Orange, California, USA.; Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, California, USA.; Cohen J; Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Saneto R; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.; Thies J; Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA.; Licchetta L; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy.; Tinuper P; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy.; Bisulli F; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy.; Minardi R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Marseille, France.; Molinari F; Biolab, PolitoBIOMedLab, Department of Electronics and Telecommunications, Politecnico di Torino, Turin, Italy.; Salimi Dafsari H; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, University of Cologne, Cologne, Germany.; Department of Paediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK.; Moller B; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Le Roux M; Department of Pediatric Neurology and Neurosurgery, CHU, Angers, France.; Houdayer C; Service de Génétique Médicale, Université d'Angers, CHU d'Angers, Inserm, CNRS, MITOVASC, SFR ICAT, Angers, France.; Vecchi M; University of Padua, Padua, Italy.; Mammi I; Medical Genetics Unit, Mirano Hospital, Venice, Italy.; Fiorini E; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy.; Proietti J; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy.; Ferri S; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Cantalupo G; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy.; Innovation Biomedicine Section, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.; Battaglia DI; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy.; Gambardella ML; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Contaldo I; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Brogna C; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Neuropsychiatric Unit, ASL Avellino, Avellino, Italy.; Trivisano M; Neurology, Epilepsy, and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, full member of the EpiCARE European Reference Network, Rome, Italy.; De Dominicis A; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy.; Bova SM; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy.; Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy.; Coppola A; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
Amanda H Kahn-Kirby; Akiko Amagata; Celine I Maeder; Janet J Mei; Steve Sideris; Yuko Kosaka; Andrew Hinman; Stephanie A Malone; Joel J Bruegger; Leslie Wang; Virna Kim; William D Shrader; Kevin G Hoff; Joey C Latham; Euan A Ashley; Matthew T Wheeler; Enrico Bertini; Rosalba Carrozzo; Diego Martinelli; Carlo Dionisi-Vici; Kimberly A Chapman; Gregory M Enns; William Gahl; Lynne Wolfe; Russell P Saneto; Simon C Johnson; Jeffrey K Trimmer; Matthew B Klein; Charles R Holst
PLoS ONE, Vol 14, Iss 3, p e0214250 (2019)
Academic Journal
Karaa A; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy. akaraa@mgh.harvard.edu.; Bertini E; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Carelli V; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Cohen BH; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Enns GM; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Falk MJ; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Goldstein A; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Gorman GS; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Haas R; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Hirano M; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Klopstock T; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Koenig MK; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Kornblum C; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Lamperti C; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Lehman A; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Longo N; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Molnar MJ; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Parikh S; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Phan H; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Pitceathly RDS; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Saneto R; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Scaglia F; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Servidei S; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Tarnopolsky M; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Toscano A; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Van Hove JLK; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Vissing J; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Vockley J; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Finman JS; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Brown DA; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Shiffer JA; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.; Mancuso M; From the Massachusetts General Hospital (A.K.), Harvard Medical School Boston; Neuromuscular Unit (E.B.), Bambino Gesù Ospedale Pediatrico, IRCCS, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C.), Programma di Neurogenetica; Department of Biomedical and Neuromotor Sciences (V.C.), University of Bologna, Italy; Rebecca D. Considine Research Institute (B.H.C.), Akron Children's Hospital, OH; Stanford University School of Medicine (G.M.E.), CA; Mitochondrial Medicine Frontier Program (M.J.F., A.G.), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Royal Victoria Infirmary (G.S.G.), Newcastle upon Tyne, United Kingdom; University of California (R.H.), San Diego, La Jolla; Columbia University Irving Medical Center (M.H.), New York; Friedrich-Baur-Institute (T.K.), Department of Neurology, LMU Hospital, Ludwig Maximilian University of Munich; German Center for Neurodegenerative Diseases (DZNE); Munich Cluster for Systems Neurology (SyNergy), Germany; Department of Pediatrics (M.K.K.), University of Texas McGovern Medical School, Houston; Department of Neurology, Neuromuscular Diseases Section (C.K.), University Hospital of Bonn, Germany; Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Milano, Italy; Vancouver General Hospital (A.L.), British Columbia, Canada; University of Utah (N.L.), Salt Lake City; Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Budapest, Hungary; Cleveland Clinic Neurological Institute (S.P.), OH; Rare Disease Research (H.P.), Atlanta, GA; Department of Neuromuscular Diseases (R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Seattle Children's Hospital (R.S.), WA; Baylor College of Medicine (F.S.), Houston, TX; Texas Children's Hospital (F.S.); Joint BCM-CUHK Center of Medical Genetics (F.S.), Hong Kong SAR; Fondazione Policlinico Universitario A. Gemelli and Istituto di Neurologia (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy; McMaster University Medical Center (M.T.), Hamilton, Ontario, Canada; Neurology and Neuromuscular Unit (A.T.), Department of Clinical and Experimental Medicine, University of Messina, Italy; University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), Aurora; Copenhagen Neuromuscular Center (John Vissing), Rigshospitalet University of Copenhagen, Denmark; Children's Hospital of Pittsburgh (Jerry Vockley), University of Pittsburgh School of Medicine, PA; Jupiter Point Pharma Consulting (J.S.F.), LLC; Stealth BioTherapeutics (D.A.B.)Write On Time Medical Communications (J.A.S.), LLC; and Department of Clinical and Experimental Medicine (M.M.), Neurological Institute, University of Pisa, Italy.
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
Academic Journal
Anne T Berg; Samya Chakravorty; Sookyong Koh; Zachary M Grinspan; Renée A Shellhaas; Russell P Saneto; Elaine C Wirrell; Jason Coryell; Catherine J Chu; John R Mytinger; William D Gaillard; Ignacio Valencia; Kelly G Knupp; Tobias Loddenkemper; Joseph E Sullivan; Annapurna Poduri; John J Millichap; Cynthia Keator; Courtney Wusthoff; Nicole Ryan; William B Dobyns; Madhuri Hegde
PLoS ONE, Vol 13, Iss 3, p e0193599 (2018)
Academic Journal
Kahn-Kirby, Amanda H.; Amagata, Akiko; Maeder, Celine I.; Mei, Janet J.; Sideris, Steve; Kosaka, Yuko; Hinman, Andrew; Malone, Stephanie A.; Bruegger, Joel J.; Wang, Leslie; Kim, Virna; Shrader, William D.; Hoff, Kevin G.; Latham, Joey C.; Ashley, Euan A.; Wheeler, Matthew T.; Bertini, Enrico; Carrozzo, Rosalba; Martinelli, Diego; Dionisi-Vici, Carlo; Chapman, Kimberly A.; Enns, Gregory M.; Gahl, William; Wolfe, Lynne; Saneto, Russell P.; Johnson, Simon C.; Trimmer, Jeffrey K.; Klein, Matthew B.; Holst, Charles R.
PLoS ONE. March 28, 2019, Vol. 14 Issue 3, e0214250
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms
Academic Journal
Berg, Anne T.; Chakravorty, Samya; Koh, Sookyong; Grinspan, Zachary M.; Shellhaas, Renée A.; Saneto, Russell P.; Wirrell, Elaine C.; Coryell, Jason; Chu, Catherine J.; Mytinger, John R.; Gaillard, William D.; Valencia, Ignacio; Knupp, Kelly G.; Loddenkemper, Tobias; Sullivan, Joseph E.; Poduri, Annapurna; Millichap, John J.; Keator, Cynthia; Wusthoff, Courtney; Ryan, Nicole; Dobyns, William B.; Hegde, Madhuri
PLoS ONE. March 8, 2018, Vol. 13 Issue 3, e0193599
Electronic Resource
Crow, YJ; Marshall, H; Rice, G; Seabra, L; Jenkinson, EM; Baranano, K; Battini, R; Berger, A; Blair, E; Blauwblomme, T; Bolduc, F; Boddaert, N; Buckard, J; Burnett, H; Calvert, S; Caumes, R; Ng, AC-H; Chiang, D; Clifford, DB; Cordelli, DM; Burca, A; Demic, N; Desguerre, I; De Waele, L; Di Fonzo, A; Dunham, SR; Dyack, S; Elmslie, F; Ferrand, M; Fisher, G; Karimiani, EG; Ghoumid, J; Gibbon, F; Goel, H; Hilmarsen, HT; Hughes, I; Jacob, A; Jones, EA; Kumar, R; Leventer, RJ; MacDonald, S; Maroofian, R; Mehta, SG; Metz, I; Monfrini, E; Neumann, D; Noetzel, M; O'Driscoll, M; Ounap, K; Panzer, A; Parikh, S; Prabhakar, P; Ramond, F; Sandford, R; Saneto, R; Soh, C; Stutterd, CA; Subramanian, GM; Talbot, K; Thomas, RH; Toro, C; Touraine, R; Wakeling, E; Wassmer, E; Whitney, A; Livingston, JH; O'Keefe, RT; Badrock, AP
Academic Journal
Ju Wang JD; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington. Electronic address: jia.juwang@seattlechildrens.org.; Chen M; Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Zhang C; Universidad Peruana Cayetano Heredia, Lima, Peru.; Parker J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Saneto R; Division of Pediatric Neurology, Department of Neurology, University of Washington School of Medicine, Seattle, Washington.; Ramirez JM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington; Departments of Neurological Surgery, University of Washington School of Medicine, Seattle, Washington; Departments of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
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
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