{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:26:04Z","timestamp":1761823564745},"reference-count":44,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Department of Biotechnology (DBT), Government of India"},{"name":"Council of Scientific and Industrial Research (CSIR), Government of India"},{"DOI":"10.13039\/100006402","name":"ALS Therapy Alliance","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006402","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Project ALS"},{"name":"Angel Fund"},{"name":"Pierre L. de Bourgknecht ALS Research Foundation"},{"name":"Al-Athel ALS Research Foundation"},{"name":"NIH\/NINDS","award":["1R01NS050557"],"award-info":[{"award-number":["1R01NS050557"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.mito.2013.02.003","type":"journal-article","created":{"date-parts":[[2013,2,16]],"date-time":"2013-02-16T09:01:52Z","timestamp":1361005312000},"page":"721-728","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Mitochondrial DNA variations in Madras motor neuron disease"],"prefix":"10.1016","volume":"13","author":[{"given":"Periyasamy","family":"Govindaraj","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atchayaram","family":"Nalini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nithin","family":"Krishna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anugula","family":"Sharath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nahid Akhtar","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rakesh","family":"Tamang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gourie-Devi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert H.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumarasamy","family":"Thangaraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2013.02.003_bb0005","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"10.1016\/j.mito.2013.02.003_bb0010","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0015","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/j.bbrc.2006.01.049","article-title":"Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment","volume":"341","author":"Ballana","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mito.2013.02.003_bb0020","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/humu.20846","article-title":"Exaggerated status of \u201cnovel\u201d and \u201cpathogenic\u201d mtDNA sequence variants due to inadequate database searches","volume":"30","author":"Bandelt","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2013.02.003_bb0025","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/ana.20624","article-title":"Mitochondria take center stage in aging and neurodegeneration","volume":"58","author":"Beal","year":"2005","journal-title":"Ann. Neurol."},{"issue":"4","key":"10.1016\/j.mito.2013.02.003_bb0030","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.ajhg.2012.03.002","article-title":"A \u2018Copernican\u2019 reassessment of the human mitochondrial DNA tree from its root","volume":"90","author":"Behar","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0035","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1046\/j.1432-1033.2003.03482.x","article-title":"Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models","volume":"270","author":"Bratton","year":"2003","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.mito.2013.02.003_bb0045","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/ana.410430119","article-title":"Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease","volume":"43","author":"Comi","year":"1998","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2013.02.003_bb0050","doi-asserted-by":"crossref","first-page":"e7922","DOI":"10.1371\/journal.pone.0007922","article-title":"The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity","volume":"4","author":"Ghelli","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.mito.2013.02.003_bb0055","first-page":"262","article-title":"Reference zero levels for pure-tone audiometer","volume":"7","author":"Goodman","year":"1965","journal-title":"ASHA"},{"key":"10.1016\/j.mito.2013.02.003_bb0060","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-510X(02)00458-6","article-title":"Madras motor neuron disease variant, clinical features of seven patients","volume":"209","author":"Gourie-Devi","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.mito.2013.02.003_bb0065","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.mito.2011.01.009","article-title":"Mitochondrial dysfunction and genetic heterogeneity in chronic periodontitis","volume":"11","author":"Govindaraj","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.02.003_bb0070","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy","volume":"46","author":"Holt","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0075","first-page":"935","article-title":"Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation","volume":"48","author":"Howell","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0080","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1086\/519394","article-title":"Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA\u2013haplogroup background","volume":"81","author":"Hudson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0085","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajhg.2008.11.002","article-title":"Mitochondrial DNA haplogroups M7b1\u20322 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G>A mutation","volume":"83","author":"Ji","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.mito.2013.02.003_bb0090","doi-asserted-by":"crossref","first-page":"e128","DOI":"10.1371\/journal.pgen.0020128","article-title":"Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics","volume":"2","author":"Kazuno","year":"2006","journal-title":"PLoS Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0095","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1093\/brain\/awm114","article-title":"Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy","volume":"130","author":"Malfatti","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.mito.2013.02.003_bb0100","first-page":"109","article-title":"Clinical pattern of motor neuron disease seen in younger age groups in Madras","volume":"18","author":"Meenakshisundaram","year":"1970","journal-title":"Neurol. India"},{"key":"10.1016\/j.mito.2013.02.003_bb0105","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.jns.2006.08.010","article-title":"Familial Madras motor neuron disease (FMMND): study of 15 families from southern India","volume":"250","author":"Nalini","year":"2006","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.mito.2013.02.003_bb0110","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.jns.2007.12.026","article-title":"Madras motor neuron disease (MMND): clinical description and survival pattern of 116 patients from Southern India seen over 36years (1971\u20132007)","volume":"269","author":"Nalini","year":"2008","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.mito.2013.02.003_bb0115","unstructured":"Nalini, A., Pandraud, A., Mok, K., Houlden, H., Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown\u2013Vialetto\u2013Van Laere Syndrome (BVVL) and C9ORF72 expansions (unpublished)."},{"issue":"Suppl. 1","key":"10.1016\/j.mito.2013.02.003_bb0120","doi-asserted-by":"crossref","first-page":"S213","DOI":"10.33549\/physiolres.930000.53.S213","article-title":"Genetic defects of cytochrome c oxidase assembly","volume":"53","author":"Pecina","year":"2004","journal-title":"Physiol. Res."},{"key":"10.1016\/j.mito.2013.02.003_bb0125","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ijcard.2005.07.065","article-title":"Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy","volume":"109","author":"Prasad","year":"2006","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.mito.2013.02.003_bb0130","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1016\/j.fertnstert.2006.04.044","article-title":"A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent","volume":"86","author":"Rani","year":"2006","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.mito.2013.02.003_bb0135","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.mito.2009.12.146","article-title":"Mitochondrial DNA haplogroup \u2018R\u2019 is associated with Noonan syndrome of south India","volume":"10","author":"Rani","year":"2010","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.02.003_bb0140","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.mito.2006.11.013","article-title":"Association studies on human mitochondrial DNA: methodological aspects and results in the most common age-related diseases","volume":"7","author":"Raule","year":"2007","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.02.003_bb0145","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2013.02.003_bb0150","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1089\/gtmb.2008.0098","article-title":"Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes","volume":"13","author":"Rydzanicz","year":"2009","journal-title":"Genet. Test. Mol. Biomarkers"},{"issue":"2","key":"10.1016\/j.mito.2013.02.003_bb0155","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/ajmg.a.20315","article-title":"Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis","volume":"123A","author":"Scaglia","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0160","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1001\/archneurol.2007.67","article-title":"The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases","volume":"65","author":"Shanske","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.mito.2013.02.003_bb0165","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1016\/j.neurobiolaging.2004.02.020","article-title":"High frequency of mitochondrial complex I mutations in Parkinson's disease and aging","volume":"25","author":"Smigrodzki","year":"2004","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.mito.2013.02.003_bb0170","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1093\/brain\/124.5.984","article-title":"Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders","volume":"124","author":"Sternberg","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.mito.2013.02.003_bb0175","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.jocn.2010.06.014","article-title":"Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external opthalmoplegia of mitochondrial origin","volume":"18","author":"Sundaram","year":"2011","journal-title":"J. Clin. Neurosci."},{"key":"10.1016\/j.mito.2013.02.003_bb0180","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/mus.20020","article-title":"Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation","volume":"29","author":"Tarnopolsky","year":"2004","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.mito.2013.02.003_bb0185","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/j.1939-4640.2002.tb02338.x","article-title":"CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations","volume":"23","author":"Thangaraj","year":"2002","journal-title":"J. Androl."},{"key":"10.1016\/j.mito.2013.02.003_bb0190","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.02.003_bb0195","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/ajmg.b.30302","article-title":"Clinical and genetic uniqueness in an individual with MELAS","volume":"141B","author":"Vanniarajan","year":"2006","journal-title":"Am. J. Med. Genet B"},{"key":"10.1016\/j.mito.2013.02.003_bb0200","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.mito.2011.01.002","article-title":"Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women","volume":"11","author":"Vanniarajan","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.02.003_bb0205","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.mito.2013.02.003_bb0210","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.mrfmmm.2008.06.004","article-title":"Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A","volume":"643","author":"Wang","year":"2008","journal-title":"Mutat. Res."},{"issue":"11","key":"10.1016\/j.mito.2013.02.003_bb0215","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":"5","key":"10.1016\/j.mito.2013.02.003_bb0220","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.mito.2012.06.009","article-title":"A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations","volume":"12","author":"Yarham","year":"2012","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.02.003_bb0225","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.cca.2009.09.023","article-title":"Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population","volume":"410","author":"Zhu","year":"2009","journal-title":"Clin. Chim. Acta"}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724913000275?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724913000275?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T03:59:10Z","timestamp":1714967950000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724913000275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":44,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S1567724913000275"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2013.02.003","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial DNA variations in Madras motor neuron disease","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2013.02.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}