{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:27Z","timestamp":1790680767172,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,1,20]],"date-time":"2022-01-20T00:00:00Z","timestamp":1642636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["I4704\u2010B"],"award-info":[{"award-number":["I4704\u2010B"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01KU2016A"],"award-info":[{"award-number":["01KU2016A"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["I4695\u2010B"],"award-info":[{"award-number":["I4695\u2010B"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1920A"],"award-info":[{"award-number":["01GM1920A"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1906A"],"award-info":[{"award-number":["01GM1906A"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005930","name":"ASCRS Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005930","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009122","name":"Ministry of Education","doi-asserted-by":"publisher","award":["NV19\u201004\u201000233"],"award-info":[{"award-number":["NV19\u201004\u201000233"]}],"id":[{"id":"10.13039\/100009122","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009980","name":"Medizinische Universit\u00e4t Innsbruck","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009980","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013295","name":"Helmholtz Zentrum M\u00fcnchen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013295","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005713","name":"Technische Universit\u00e4t M\u00fcnchen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005713","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPase\u2010related diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing in cohorts with 2,962 patients diagnosed with mitochondrial disease and\/or dystonia and international collaboration were used to identify deleterious variants in ATPase\u2010encoding genes. Findings were complemented by transcriptional and proteomic profiling of patient fibroblasts. ATPase integrity and activity were assayed using cells and tissues from 5 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We present 10 total individuals with biallelic or de novo monoallelic variants in nuclear ATPase subunit genes. Three unrelated patients showed the same homozygous missense <jats:italic>ATP5F1E<\/jats:italic> mutation (including one published case). An intronic splice\u2010disrupting alteration in compound heterozygosity with a nonsense variant in <jats:italic>ATP5PO<\/jats:italic> was found in one patient. Three patients had de novo heterozygous missense variants in <jats:italic>ATP5F1A<\/jats:italic>, whereas another 3 were heterozygous for <jats:italic>ATP5MC3<\/jats:italic> de novo missense changes. Bioinformatics methods and populational data supported the variants\u2019 pathogenicity. Immunohistochemistry, proteomics, and\/or immunoblotting revealed significantly reduced ATPase amounts in association to <jats:italic>ATP5F1E<\/jats:italic> and <jats:italic>ATP5PO<\/jats:italic> mutations. Diminished activity and\/or defective assembly of ATPase was demonstrated by enzymatic assays and\/or immunoblotting in patient samples bearing <jats:italic>ATP5F1A<\/jats:italic>\u2010p.Arg207His, <jats:italic>ATP5MC3<\/jats:italic>\u2010p.Gly79Val, and <jats:italic>ATP5MC3<\/jats:italic>\u2010p.Asn106Lys. The associated clinical profiles were heterogeneous, ranging from hypotonia with spontaneous resolution (1\/10) to epilepsy with early death (1\/10) or variable persistent abnormalities, including movement disorders, developmental delay, intellectual disability, hyperlactatemia, and other neurologic and systemic features. Although potentially reflecting an ascertainment bias, dystonia was common (7\/10).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our results establish evidence for a previously unrecognized role of ATPase nuclear\u2010gene defects in phenotypes characterized by neurodevelopmental and neurodegenerative features. ANN NEUROL 2022;91:225\u2013237<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.26293","type":"journal-article","created":{"date-parts":[[2021,12,26]],"date-time":"2021-12-26T14:13:35Z","timestamp":1640528015000},"page":"225-237","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Variants in Mitochondrial <scp>ATP<\/scp> Synthase Cause Variable Neurologic Phenotypes"],"prefix":"10.1002","volume":"91","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8112-9153","authenticated-orcid":false,"given":"Michael","family":"Zech","sequence":"first","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9119-3455","authenticated-orcid":false,"given":"Robert","family":"Kopajtich","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Steinbr\u00fccker","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Paracelsus Medical University (PMU)  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bris","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche MITOVASC, CNRS 6015\/INSERM 1083, Universit\u00e9 d'Angers  Angers France"},{"name":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique Centre Hospitalier Universitaire d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naig","family":"Gueguen","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche MITOVASC, CNRS 6015\/INSERM 1083, Universit\u00e9 d'Angers  Angers France"},{"name":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique Centre Hospitalier Universitaire d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4215-8258","authenticated-orcid":false,"given":"Ren\u00e9 G.","family":"Feichtinger","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Paracelsus Medical University (PMU)  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie T.","family":"Achleitner","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Paracelsus Medical University (PMU)  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neslihan","family":"Duzkale","sequence":"additional","affiliation":[{"name":"Department of Medical Genetic Diskapi Yildirim Beyazit Training and Research Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilien","family":"P\u00e9rivier","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department CHU Clocheville  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Koch","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Paracelsus Medical University (PMU)  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Engelhardt","sequence":"additional","affiliation":[{"name":"Kinderkrankenhaus St. Marien gGmbH, Zentrum f\u00fcr Kinder\u2010 und Jugendmedizin  Landshut Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Freisinger","sequence":"additional","affiliation":[{"name":"Children's Hospital Kreiskliniken  Reutlingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4454-8823","authenticated-orcid":false,"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5183-780X","authenticated-orcid":false,"given":"Theresa","family":"Brunet","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Berutti","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5802-844X","authenticated-orcid":false,"given":"Dmitrii","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tharsini","family":"Navaratnarajah","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.T.","family":"Rodenburg","sequence":"additional","affiliation":[{"name":"Radboud Centre for Mitochondrial Medicine, Department of Paediatrics Radboud Institute for Molecular Life Sciences Radboud University Nijmegen Medical Centre Nijmegen  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn S","family":"Pais","sequence":"additional","affiliation":[{"name":"Program in Medical and Population Genetics, Broad Institute  Cambridge MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Austin\u2010Tse","sequence":"additional","affiliation":[{"name":"Harvard Medical School &amp; Center for Genomic Medicine, Massachusetts General Hospital, Boston &amp; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine  Cambridge MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"O'Leary","sequence":"additional","affiliation":[{"name":"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard  Cambridge MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Boesch","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Jech","sequence":"additional","affiliation":[{"name":"Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somayeh","family":"Bakhtiari","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital  Phoenix AZ"},{"name":"Departments of Child Health, Neurology, and Cellular &amp; Molecular Medicine, and Program in Genetics University of Arizona College of Medicine\u2010Phoenix  Phoenix AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng Chih","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Genetics Washington University School of Medicine  St. Louis MO"},{"name":"Department of Pediatrics Washington University School of Medicine  St Louis MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friederike","family":"Wilbert","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C","family":"Kruer","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital  Phoenix AZ"},{"name":"Departments of Child Health, Neurology, and Cellular &amp; Molecular Medicine, and Program in Genetics University of Arizona College of Medicine\u2010Phoenix  Phoenix AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia B.","family":"Wortmann","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Paracelsus Medical University (PMU)  Salzburg Austria"},{"name":"Radboud Center for Mitochondrial Medicine, Department of Pediatrics Amalia Children's Hospital, Radboud UMC  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Eckenweiler","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes A.","family":"Mayr","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Paracelsus Medical University (PMU)  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Steinfeld","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology University Children's Hospital Zurich, University of Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Lehrstuhl f\u00fcr Neurogenetik, Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy)  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2379-6286","authenticated-orcid":false,"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2016.80"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/35089509"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1722086115"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9382-9"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.600079"},{"key":"e_1_2_8_7_1","first-page":"325","article-title":"The ATP synthase deficiency in human diseases","volume":"11","author":"Galber C","year":"2021","journal-title":"Life (Basel)"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2018.00329"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28821"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq254"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt086"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182918c40"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.020"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy231"},{"key":"e_1_2_8_15_1","doi-asserted-by":"crossref","unstructured":"StentonSL ShimuraM Piekutowska\u2010AbramczukD et al.Diagnosing pediatric mitochondrial disease: lessons from 2 000 exomes. medRxiv [Preprint].https:\/\/doi.org\/10.1101\/2021.06.21.21259171.","DOI":"10.1101\/2021.06.21.21259171"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30312-4"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_8_18_1","first-page":"811","article-title":"Investigation of hereditary cancer predisposition genes of patients with colorectal cancer: single\u2010Centre experience","volume":"30","author":"Duzkale N","year":"2021","journal-title":"J Coll Physicians Surg Pak"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-0695-1"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13603"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1099"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/msb.2011.75"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.1.235"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.015"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcab063"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15824"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab238"},{"key":"e_1_2_8_31_1","doi-asserted-by":"crossref","unstructured":"KopajtichR SmirnovD StentonSL et al.Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders. bioRxiv [Preprint].https:\/\/doi.org\/10.1101\/2021.03.09.21253187.","DOI":"10.1101\/2021.03.09.21253187"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv007"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2021.05.002"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2832-5"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.14068"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.06.012"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2020.102784"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.26293","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ana.26293","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.26293","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T02:04:57Z","timestamp":1692842697000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.26293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,20]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1002\/ana.26293"],"URL":"https:\/\/doi.org\/10.1002\/ana.26293","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,20]]},"assertion":[{"value":"2021-08-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}