{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T03:10:10Z","timestamp":1791169810123,"version":"4.1.0"},"reference-count":19,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2004,2]]},"DOI":"10.1016\/j.nmd.2003.11.006","type":"journal-article","created":{"date-parts":[[2003,12,23]],"date-time":"2003-12-23T05:47:38Z","timestamp":1072158458000},"page":"130-135","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":123,"title":["Pilot trial of phenylbutyrate in spinal muscular atrophy"],"prefix":"10.1016","volume":"14","author":[{"given":"Eugenio","family":"Mercuri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Pelliccioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D'Amico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Colitto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Mirabella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco D","family":"Tiziano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Vitali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Angelozzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Main","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Brahe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2003.11.006_BIB1","series-title":"Muscle disorders in childhood","author":"Dubowitz","year":"1995"},{"key":"10.1016\/j.nmd.2003.11.006_BIB2","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","article-title":"Natural history in proximal spinal muscular atrophy","volume":"52","author":"Zerres","year":"1995","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB3","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1007\/s00415-002-0811-4","article-title":"Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity","volume":"249","author":"Harada","year":"2002","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB4","doi-asserted-by":"crossref","first-page":"2525","DOI":"10.1093\/hmg\/8.13.2525","article-title":"Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients","volume":"8","author":"Vitali","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2003.11.006_BIB5","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time light Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldkotter","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.11.006_BIB6","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation een severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2003.11.006_BIB7","doi-asserted-by":"crossref","first-page":"9808","DOI":"10.1073\/pnas.171105098","article-title":"Treatment of spinal muscular atrophy by sodium butyrate","volume":"98","author":"Chang","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2003.11.006_BIB8","article-title":"Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy","author":"Andreassi","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2003.11.006_BIB9","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s11940-003-0037-5","article-title":"Urea cycle disorders","volume":"5","author":"Kleppe","year":"2003","journal-title":"Curr Treat Options Neurol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB10","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S1090-3798(03)00060-6","article-title":"The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation","volume":"7","author":"Main","year":"2003","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB11","first-page":"1790","article-title":"Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease","volume":"93","author":"Atweh","year":"1999","journal-title":"Blood"},{"key":"10.1016\/j.nmd.2003.11.006_BIB12","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/mus.10166","article-title":"Reliability of hand-held dynamometer in spinal muscular atrophy","volume":"26","author":"Merlini","year":"2002","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2003.11.006_BIB13","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1212\/WNL.59.4.609","article-title":"Pilot trial of albuterol in spinal muscular atrophy","volume":"59","author":"Kinali","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2003.11.006_BIB14","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1177\/08830738030180080501","article-title":"Role of gabapentin in spinal muscular atrophy: results of a multicentre randomised Italian study","volume":"18","author":"Merlini","year":"2003","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB15","first-page":"F271","article-title":"Butyrate increases apical membrane CFTR but reduces choride secretion in MDCK cells","volume":"277","author":"Moyer","year":"1999","journal-title":"Am J Physiol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB16","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1001\/archneur.59.9.1445","article-title":"Outcome measures for pediatric spinal muscular atrophy","volume":"59","author":"Iannacone","year":"2002","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB17","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1001\/archneur.60.8.1130","article-title":"Reliability of 4 outcome measures in pediatric spinal muscular atrophy","volume":"60","author":"Iannacone","year":"2003","journal-title":"Arch Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2003.11.006_BIB18","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1083\/jcb.152.5.1107","article-title":"Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy","volume":"152","author":"Cifuentes-Diaz","year":"2001","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2003.11.006_BIB19","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1093\/hmg\/11.12.1439","article-title":"Neurofilament accululation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model","volume":"11","author":"Cifuentes-Diaz","year":"2002","journal-title":"Hum Mol Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896603002591?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896603002591?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:52:08Z","timestamp":1760773928000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896603002591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["S0960896603002591"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2003.11.006","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2004,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pilot trial of phenylbutyrate in spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2003.11.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2003 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}