{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T21:15:55Z","timestamp":1792444555033,"version":"4.5.0"},"reference-count":38,"publisher":"Massachusetts Medical Society","issue":"25","license":[{"start":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T00:00:00Z","timestamp":1624492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.nejmgroup.org\/legal\/terms-of-use.htm"}],"funder":[{"DOI":"10.13039\/100014013","name":"MRC\/EPSRC Molecular Pathology Node","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013986","name":"UK NHS Specialist Commissioners","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013986","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004410","name":"EMBO Short Term Fellowship","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004410","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005633","name":"Finnish Cardiovascular Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union Horizon 2020","doi-asserted-by":"publisher","award":["BMBF 01GM1607"],"award-info":[{"award-number":["BMBF 01GM1607"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["320030_179547"],"award-info":[{"award-number":["320030_179547"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Centre for Mitochondrial Research","award":["203105\/Z\/16\/Z"],"award-info":[{"award-number":["203105\/Z\/16\/Z"]}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease","doi-asserted-by":"publisher","award":["G0800674"],"award-info":[{"award-number":["G0800674"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022186","name":"the Lily Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100022186","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000272","name":"UK NIHR Biomedical Research Centre for Ageing and Age-related disease","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[2021,6,24]]},"DOI":"10.1056\/nejmoa1915722","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T17:01:09Z","timestamp":1624467669000},"page":"2406-2417","source":"Crossref","is-referenced-by-count":185,"title":["Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans"],"prefix":"10.1056","volume":"384","author":[{"given":"Jack J.","family":"Collier","sequence":"first","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Guissart","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Ol\u00e1hov\u00e1","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Souphatta","family":"Sasorith","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Piron-Prunier","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8883-3338","authenticated-orcid":false,"given":"Fumi","family":"Suomi","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Zhang","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Martinez-Lopez","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Leboucq","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Bahr","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Azzarello-Burri","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2693-4202","authenticated-orcid":false,"given":"Selina","family":"Reich","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuomo M.","family":"Polvikoski","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Meyer","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Larrieu","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew M.","family":"Schaefer","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hessa S.","family":"Alsaif","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suad","family":"Alyamani","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas A.","family":"Barbosa","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charu","family":"Deshpande","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Pyle","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Rivier","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Ryten","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"McFarland","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Delahodde","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas G.","family":"McWilliams","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7768-8873","authenticated-orcid":false,"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[{"name":"From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy\u2019s Hospital, King\u2019s College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy\u2019s and St. Thomas\u2019 NHS Foundation Trust (C.D.), London \u2014 all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Refere..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"150","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201796697"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2017.1378838"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41580-018-0003-4"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41556-018-0092-5"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.09.048"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1080\/08035250410022413"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.12245"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2562"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.019"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13054"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz075"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra2022774"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1042\/NS20180134"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1042\/EBC20170021"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/26506"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/35044114"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200412022"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13238-015-0195-8"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701311104"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature04723"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2009.10.008"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.2016211"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.10.035"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01753355"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2015.1100356"},{"key":"e_1_3_4_28_2","first-page":"57971","article-title":"The lactate dehydrogenase sequestration assay \u2014 a simple and reliable method to determine bulk autophagic sequestration activity in mammalian cells.","volume":"137","author":"Luhr M","year":"2018","unstructured":"Luhr M, Szalai P, Engedal N. The lactate dehydrogenase sequestration assay \u2014 a simple and reliable method to determine bulk autophagic sequestration activity in mammalian cells. J Vis Exp 2018;137:57971-57971.30102280","journal-title":"J Vis Exp"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/bs.mie.2016.09.064"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(08)03203-5"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/bs.mie.2016.09.086"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2019.1632621"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1516767"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-0707-1"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08455"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaf6136"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201607039"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2019.12.001"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2016.09.001"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJMoa1915722","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T18:28:48Z","timestamp":1749666528000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/10.1056\/NEJMoa1915722"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,24]]},"references-count":38,"journal-issue":{"issue":"25","published-print":{"date-parts":[[2021,6,24]]}},"alternative-id":["10.1056\/NEJMoa1915722"],"URL":"https:\/\/doi.org\/10.1056\/nejmoa1915722","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.740350352.793586690","asserted-by":"object"}]},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,24]]}}}