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Paper Details

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Neurology
12
2023
Elamipretide, Mitochondrial Myopathy, PMM, PMMs, Participants, Primary mitochondrial myopathies, elamipretide, fatigue, genetic disorders, mitochondrial DNA, mitochondrial myopathy, mtDNA, nDNA, nuclear DNA, participants, patient, patients, tiredness, women
Author NameAffiliation
Amel KaraaFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Enrico BertiniFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Enrico BertiniFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Bruce H CohenFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Gregory M EnnsFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Gr??inne S GormanFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Richard HaasFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Mary Kay KoenigFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Sumit ParikhFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Russell P SanetoFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Fernando ScagliaFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Mark A TarnopolskyFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Johan L K Van HoveFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
Jerry VockleyFrom the Massachusetts General Hospital (A.K.), Harvard Medical School Boston Neuromuscular Unit (E.B.), IRCCS, Rome IRCCS Istituto delle Scienze Neurologiche di Bologna (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.), Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Royal Victoria Infirmary (G.S.G.), United Kingdom University of California (R.H.), La Jolla Columbia University Irving Medical Center (M.H.), New York Friedrich-Baur-Institute (T.K.), LMU Hospital, Ludwig Maximilian University of Munich German Center for Neurodegenerative Diseases (DZNE) Munich Cluster for Systems Neurology (SyNergy), University of Texas McGovern Medical School, University Hospital of Bonn, Germany Fondazione IRCCS Istituto Neurologico Carlo Besta (C.L.), Italy Vancouver General Hospital (A.L.), Canada University of Utah (N.L.), Salt Lake City Institute of Genomic Medicine and Rare Disorders (M.J.M.), Semmelweis University, Hungary Cleveland Clinic Neurological Institute (S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, United Kingdom Seattle Children's Hospital (R.S.), WA Baylor College of Medicine (F.S.), 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.), Universita Cattolica del Sacro Cuore, Italy McMaster University Medical Center (M.T.), University of Messina, Italy University of Colorado and Children's Hospital Colorado (J.L.K.V.H.), 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.), Neurological Institute, University of Pisa
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Datasets

ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link
ClinicalTrials.govClinicalTrials.gov, a registry and results database of of privately and publicly funded clinical studies conducted around the world, is operated by the U.S. National Library of Medicine (NLM). Structured study information is provided, voluntarily or to meet legal and policy requirements, by the sponsor or investigator responsible for the research. NLM does not verify the scientific validity or relevance of the submitted information beyond a limited quality control review for apparent errors, deficiencies, or inconsistencies.Link