{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:51:35Z","timestamp":1787068295996,"version":"build-2736575974"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T00:00:00Z","timestamp":1722556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","nmd-journal.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.nmd.2024.07.005","type":"journal-article","created":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T03:29:15Z","timestamp":1722569355000},"page":"14-19","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Niacin supplementation in a child with novel MTTN variant m.5670A&gt;G causing early onset mitochondrial myopathy and NAD+ deficiency"],"prefix":"10.1016","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2522-4823","authenticated-orcid":false,"given":"Juho","family":"Aaltio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliya","family":"Euro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olli","family":"Tynninen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hieu S.","family":"Vu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Ni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph J.","family":"DeBerardinis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Suomalainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pirjo","family":"Isohanni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2024.07.005_bib0001","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2016.80","article-title":"Mitochondrial diseases","volume":"2","author":"Gorman","year":"2016","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.nmd.2024.07.005_bib0002","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1093\/brain\/awn236","article-title":"Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome","volume":"131","author":"Gotz","year":"2008","journal-title":"Brain"},{"issue":"2","key":"10.1016\/j.nmd.2024.07.005_bib0003","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/wrna.27","article-title":"Mitochondrial tRNA mutations and disease","volume":"1","author":"Yarham","year":"2010","journal-title":"Wiley Interdiscip Rev RNA"},{"issue":"6","key":"10.1016\/j.nmd.2024.07.005_bib0004","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.cmet.2020.04.008","article-title":"Niacin cures systemic NAD(+) deficiency and improves muscle performance in adult-onset mitochondrial myopathy","volume":"31","author":"Pirinen","year":"2020","journal-title":"Cell Metab"},{"issue":"6","key":"10.1016\/j.nmd.2024.07.005_bib0005","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1002\/emmm.201403943","article-title":"Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3","volume":"6","author":"Khan","year":"2014","journal-title":"EMBO Mol Med"},{"issue":"Database","key":"10.1016\/j.nmd.2024.07.005_bib0006","doi-asserted-by":"crossref","first-page":"D823","DOI":"10.1093\/nar\/gkl927","article-title":"An enhanced MITOMAP with a global mtDNA mutational phylogeny","volume":"35","author":"Ruiz-Pesini","year":"2007","journal-title":"Nucleic Acids Res"},{"issue":"11","key":"10.1016\/j.nmd.2024.07.005_bib0007","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/humu.21575","article-title":"A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations","volume":"32","author":"Yarham","year":"2011","journal-title":"Hum Mutat"},{"issue":"12","key":"10.1016\/j.nmd.2024.07.005_bib0008","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1005867","article-title":"Sondheimer N. Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP","volume":"13","author":"Sonney","year":"2017","journal-title":"PLoS Comput Biol"},{"issue":"1","key":"10.1016\/j.nmd.2024.07.005_bib0009","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1748-7188-6-26","article-title":"ViennaRNA Package 2.0","volume":"6","author":"Lorenz","year":"2011","journal-title":"Algorithms for Molecular Biol"},{"issue":"W1","key":"10.1016\/j.nmd.2024.07.005_bib0010","doi-asserted-by":"crossref","first-page":"W388","DOI":"10.1093\/nar\/gkab382","article-title":"MetaboAnalyst 5.0: narrowing the gap between raw spectra and functional insights","volume":"49","author":"Pang","year":"2021","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"10.1016\/j.nmd.2024.07.005_bib0011","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/ane.13339","article-title":"Progressive external ophthalmoplegia associated with novel MT-TN mutations","volume":"143","author":"Visuttijai","year":"2021","journal-title":"Acta Neurol Scand"},{"issue":"4","key":"10.1016\/j.nmd.2024.07.005_bib0012","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.bbrc.2011.06.155","article-title":"Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene","volume":"412","author":"Bruno","year":"2011","journal-title":"Biochem Biophys Res Commun"},{"issue":"3","key":"10.1016\/j.nmd.2024.07.005_bib0013","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ejhg.2011.238","article-title":"The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment","volume":"20","author":"Ronchi","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2024.07.005_bib0014","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1001\/archneur.63.8.1194","article-title":"A novel mitochondrial transfer RNA(Asn) Mutation causing multiorgan failure","volume":"63","author":"Meulemans","year":"2006","journal-title":"Arch Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2024.07.005_bib0015","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1016\/j.bbrc.2005.02.083","article-title":"A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease","volume":"329","author":"Coulbault","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"issue":"8","key":"10.1016\/j.nmd.2024.07.005_bib0016","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1002\/humu.24037","article-title":"Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases","volume":"41","author":"Zereg","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2024.07.005_bib0017","doi-asserted-by":"crossref","first-page":"3165","DOI":"10.1093\/brain\/awp221","article-title":"Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy","volume":"132","author":"Horvath","year":"2009","journal-title":"Brain"},{"issue":"2","key":"10.1016\/j.nmd.2024.07.005_bib0018","doi-asserted-by":"crossref","first-page":"eadd5163","DOI":"10.1126\/sciadv.add5163","article-title":"Nicotinamide riboside improves muscle mitochondrial biogenesis, satellite cell differentiation, and gut microbiota in a twin study","volume":"9","author":"Lapatto","year":"2023","journal-title":"Sci Adv"},{"issue":"23","key":"10.1016\/j.nmd.2024.07.005_bib0019","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2020105364","article-title":"Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency","volume":"39","author":"Hathazi","year":"2020","journal-title":"EMBO J"},{"key":"10.1016\/j.nmd.2024.07.005_bib0020","doi-asserted-by":"crossref","first-page":"11457","DOI":"10.1038\/ncomms11457","article-title":"Asparagine promotes cancer cell proliferation through use as an amino acid exchange factor","volume":"7","author":"Krall","year":"2016","journal-title":"Nat Commun"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624001469?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624001469?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T10:12:15Z","timestamp":1729505535000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896624001469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":20,"alternative-id":["S0960896624001469"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2024.07.005","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiency","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2024.07.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}