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Karger AG","issue":"2","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"published-print":{"date-parts":[[2004]]},"abstract":"The patient was a 57-year-old Japanese man who gradually developed muscle atrophy and weakness in the trunk and limbs since the age of 20 years and was wheelchair bound at the age of 56 years. The gene copy number assay confirmed the combined homozygous deletion of the survival motor neuron <i>(SMN) <\/i>1 and neuronal apoptosis inhibitory protein <i>(NAIP)<\/i> genes and showed the presence of 4 copies of the <i>SMN2<\/i> gene. In this patient, the significant increase in the number of the <i>SMN2<\/i> gene copies should compensate for the homozygous deletion of the <i>SMN1 <\/i>gene and make his disease milder despite the absence of the <i>NAIP<\/i> gene. Taken together with our previous data, we may reasonably hypothesize that the <i>SMN2<\/i> gene copy number is more critical in determining the severity of the disease compared to the <i>NAIP<\/i> genotype.<\/jats:p>","DOI":"10.1159\/000080140","type":"journal-article","created":{"date-parts":[[2004,8,12]],"date-time":"2004-08-12T13:02:27Z","timestamp":1092315747000},"page":"101-106","source":"Crossref","is-referenced-by-count":10,"title":["Significant Increase in the Number of the <i>SMN2<\/i> Gene Copies in an Adult-Onset Type III Spinal Muscular Atrophy Patient with Homozygous Deletion of the <i>NAIP<\/i> Gene"],"prefix":"10.1159","volume":"52","author":[{"given":"Mariko","family":"Yamashita","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisahide","family":"Nishio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Harada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2004,9,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS0960-8966%2806%2980015-5"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F344540a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F345823a0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2F344767a0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086%2F513886"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2895%2990460-3"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.10.1927"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.2.257"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.4.631"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200599"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F6.3.497"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007%2Fs100480050040"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F6.8.1205"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200210"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1086%2F302369"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2895%2990461-1"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159%2F000022907"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2895%2990732-7"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1997.5141"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C463%3A%3AAID-AJMG6%3E3.0.CO%3B2-V"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00415-002-0811-4"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-510X%2898%2900053-7"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410440522"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1159%2F000054032"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0797-265"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050253"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1159%2F000022909"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2895%2991507-9"}],"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/80140","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/80140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:31:29Z","timestamp":1745465489000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000080140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2004,9,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000080140","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"type":"print","value":"0014-3022"},{"type":"electronic","value":"1421-9913"}],"subject":[],"published":{"date-parts":[[2004]]}}}