{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:26:43Z","timestamp":1779362803844,"version":"3.51.4"},"reference-count":33,"publisher":"Elsevier BV","issue":"1-2","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\/"},{"start":{"date-parts":[[2014,4,4]],"date-time":"2014-04-04T00:00:00Z","timestamp":1396569600000},"content-version":"vor","delay-in-days":154,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.jns.2013.08.003","type":"journal-article","created":{"date-parts":[[2013,8,13]],"date-time":"2013-08-13T21:48:08Z","timestamp":1376430488000},"page":"119-122","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown\u2013Vialetto\u2013Van Laere syndrome"],"prefix":"10.1016","volume":"334","author":[{"given":"Atchayaram","family":"Nalini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amelie","family":"Pandraud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kin","family":"Mok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"Suppl. 1","key":"10.1016\/j.jns.2013.08.003_bb0005","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.jns.2013.08.003_bb0010","series-title":"Tropical neurology","first-page":"127","article-title":"Juvenile motor neuron disease","author":"Jagannathan","year":"1973"},{"key":"10.1016\/j.jns.2013.08.003_bb0015","series-title":"Motor neuron disease","first-page":"191","article-title":"Madras pattern of motor neuron disease","author":"Jagannathan","year":"1987"},{"key":"10.1016\/j.jns.2013.08.003_bb0020","series-title":"Amyotrophic lateral sclerosis in Asia and Oceania Taipei","first-page":"91","article-title":"Motor neuron disease in India","author":"Mathai","year":"1984"},{"issue":"6","key":"10.1016\/j.jns.2013.08.003_bb0025","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1136\/jnnp.51.6.773","article-title":"Madras pattern of motor neuron disease in South India","volume":"51","author":"Gourie-Devi","year":"1988","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.jns.2013.08.003_bb0030","series-title":"Motor neuron disease","first-page":"171","article-title":"Pattern of motor neuron disease in South India and Monomelic amyotrophy (a benign atypical form)","author":"Gourie-Devi","year":"1987"},{"issue":"1","key":"10.1016\/j.jns.2013.08.003_bb0035","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/0022-510X(87)90075-X","article-title":"Clinical neurophysiological examination of deafness associated with juvenile motor neurone disease","volume":"78","author":"Wadia","year":"1987","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jns.2013.08.003_bb0040","series-title":"Motor neuron disease","first-page":"165","article-title":"Motor neuron disease in West India","author":"Bharucha","year":"1987"},{"issue":"1","key":"10.1016\/j.jns.2013.08.003_bb0045","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1600-0404.1997.tb00232.x","article-title":"Pattern of motor neurone disease in eastern India","volume":"96","author":"Saha","year":"1997","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.jns.2013.08.003_bb0050","first-page":"321","article-title":"\u201cMadras\u201d motor neurone disease from \u201cWest Bengal\u201d","volume":"53","author":"Kundu","year":"2005","journal-title":"J Assoc Physicians India"},{"issue":"6","key":"10.1016\/j.jns.2013.08.003_bb0055","first-page":"399","article-title":"Madras pattern of motor neuron disease: case report from Thailand","volume":"79","author":"Phanthumchinda","year":"1996","journal-title":"J Med Assoc Thai"},{"issue":"6","key":"10.1016\/j.jns.2013.08.003_bb0060","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/S1388-2457(98)00029-7","article-title":"Delayed focal involvement of upper motor neurons in the Madras pattern of motor neuron disease","volume":"109","author":"Massa","year":"1998","journal-title":"Electroencephalogr Clin Neurophysiol"},{"issue":"3","key":"10.1016\/j.jns.2013.08.003_bb0065","first-page":"141","article-title":"Madras pattern of motor neuron disease: improvement of symptoms with intravenous immunoglobulin","volume":"17","author":"Fan","year":"2004","journal-title":"Natl Med J India"},{"issue":"1\u20132","key":"10.1016\/j.jns.2013.08.003_bb0070","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"},{"issue":"1\u20132","key":"10.1016\/j.jns.2013.08.003_bb0075","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.jns.2013.08.003_bb0080","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1097\/00005053-189411000-00003","article-title":"Infantile amyotrophic lateral sclerosis of the family type","volume":"21","author":"Brown","year":"1894","journal-title":"J Nerv Ment Dis"},{"key":"10.1016\/j.jns.2013.08.003_bb0085","first-page":"1","article-title":"Contributo alla forma ereditaria della paralisi bulbare progressive","volume":"40","author":"Vialetto","year":"1936","journal-title":"Riv Sper Freniatr"},{"issue":"2","key":"10.1016\/j.jns.2013.08.003_bb0090","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.26.2.105","article-title":"Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?","volume":"26","author":"Boltshauser","year":"1989","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.jns.2013.08.003_bb0095","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/j.1399-0004.1975.tb01511.x","article-title":"The Nathalie syndrome. A new hereditary syndrome","volume":"8","author":"Cremers","year":"1975","journal-title":"Clin Genet"},{"issue":"Pt 6","key":"10.1016\/j.jns.2013.08.003_bb0100","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1093\/brain\/115.6.1889","article-title":"Progressive bulbar paralysis of childhood. A reappraisal of Fazio\u2013Londe disease","volume":"115","author":"McShane","year":"1992","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.jns.2013.08.003_bb0105","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.ajhg.2010.02.006","article-title":"Brown\u2013Vialetto\u2013Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54","volume":"86","author":"Green","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.jns.2013.08.003_bb0110","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.ajhg.2010.05.021","article-title":"Exome sequencing in Brown\u2013Vialetto\u2013van Laere syndrome","volume":"87","author":"Johnson","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.jns.2013.08.003_bb0115","doi-asserted-by":"crossref","first-page":"E1976","DOI":"10.1002\/humu.21399","article-title":"Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B","volume":"32","author":"Ho","year":"2011","journal-title":"Hum Mutat"},{"issue":"Pt 9","key":"10.1016\/j.jns.2013.08.003_bb0120","doi-asserted-by":"crossref","first-page":"2875","DOI":"10.1093\/brain\/aws161","article-title":"Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease","volume":"Sep;135","author":"Johnson","year":"2012","journal-title":"Brain"},{"issue":"2","key":"10.1016\/j.jns.2013.08.003_bb0125","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"issue":"2","key":"10.1016\/j.jns.2013.08.003_bb0130","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"issue":"3","key":"10.1016\/j.jns.2013.08.003_bb0135","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.ajhg.2010.02.006","article-title":"Brown\u2013Vialetto\u2013Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54","volume":"86","author":"Green","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.jns.2013.08.003_bb0140","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.ajhg.2010.05.021","article-title":"Exome sequencing in Brown\u2013Vialetto\u2013van Laere syndrome","volume":"87","author":"Johnson","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jns.2013.08.003_bb0145","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.jns.2013.08.003_bb0150","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1001\/archneur.1962.00450220059009","article-title":"Progressive bulbar paralysis in childhood (Fazio\u2013Londe's disease). Report of a case with pathologic evidence of nuclear atrophy","volume":"6","author":"Gomez","year":"1962","journal-title":"Arch Neurol"},{"issue":"2","key":"10.1016\/j.jns.2013.08.003_bb0155","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<117::AID-AJMG7>3.0.CO;2-C","article-title":"Brown\u2013Vialetto\u2013Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?","volume":"92","author":"Megarbane","year":"2000","journal-title":"Am J Med Genet"},{"issue":"6","key":"10.1016\/j.jns.2013.08.003_bb0160","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1007\/BF00314095","article-title":"Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta\u2013van Laere syndrome or Madras-type motor neuron disease?","volume":"234","author":"Summers","year":"1987","journal-title":"J Neurol"},{"issue":"3","key":"10.1016\/j.jns.2013.08.003_bb0165","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1136\/jmg.27.3.176","article-title":"Pontobulbar palsy and neurosensory deafness (Brown\u2013Vialetto\u2013Van Laere syndrome) with possible autosomal dominant inheritance","volume":"27","author":"Hawkins","year":"1990","journal-title":"J Med Genet"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13028529?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13028529?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,20]],"date-time":"2019-07-20T22:55:31Z","timestamp":1563663331000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X13028529"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":33,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S0022510X13028529"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2013.08.003","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown\u2013Vialetto\u2013Van Laere syndrome","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2013.08.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}