{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:17:39Z","timestamp":1760782659061},"reference-count":4,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1998,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III.<\/jats:p>\n               <jats:p>A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration.<\/jats:p>\n               <jats:p>Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions.<\/jats:p>","DOI":"10.1515\/cclm.1998.119","type":"journal-article","created":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T13:48:36Z","timestamp":1097243316000},"page":"667-669","source":"Crossref","is-referenced-by-count":3,"title":["Molecular Analysis and Electromyoneurographic Abnormalities in Croatian Children with Proximal Spinal Muscular Atrophies"],"prefix":"10.1515","volume":"36","author":[{"given":"Nina","family":"Bari\u0161i\u0107","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jadranka","family":"Serti\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Billi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo","family":"Bari\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir","family":"Sarnavka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomislav","family":"Babi\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pero","family":"Hraba\u010d","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davor","family":"Begovi\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Florentin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Stavljeni\u0107-Rukavina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2005,6,1]]},"reference":[{"key":"p_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90051-S"},{"key":"p_2","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","volume":"52","author":"Zerres K","year":"1995","journal-title":"Arch Neurol"},{"key":"p_3","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293462"},{"key":"p_4","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90461-1"}],"container-title":["cclm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.1998.119\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.1998.119\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T14:42:44Z","timestamp":1647268964000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.1998.119\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,8,1]]},"references-count":4,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2005,6,1]]},"published-print":{"date-parts":[[1998,8,1]]}},"alternative-id":["10.1515\/CCLM.1998.119"],"URL":"https:\/\/doi.org\/10.1515\/cclm.1998.119","relation":{},"ISSN":["1434-6621"],"issn-type":[{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[1998,8,1]]}}}