{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:55Z","timestamp":1791279955753,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1995,11,1]],"date-time":"1995-11-01T00:00:00Z","timestamp":815184000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1995,11]]},"DOI":"10.1038\/ng1195-335","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:06:00Z","timestamp":1092859560000},"page":"335-337","source":"Crossref","is-referenced-by-count":158,"title":["A frame\u2013shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients"],"prefix":"10.1038","volume":"11","author":[{"given":"Elena","family":"Bussaglia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Clermont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzie","family":"Lefebvre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"B\u00fcrglen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Cruaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon Andoni","family":"Urtizberea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaume","family":"Colomer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Baiget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Melki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng1195335_CR1","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1136\/jmg.10.3.260","volume":"10","author":"J Pearn","year":"1973","unstructured":"Pearn, J. The gene frequency of acute Werdnig-Hoffmann disease (SMA type I). A total population survey in North-East England. J. med. Genet. 10, 260\u2013265 (1973).","journal-title":"J. med. Genet."},{"key":"BFng1195335_CR2","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1136\/jmg.15.6.409","volume":"15","author":"J Pearn","year":"1978","unstructured":"Pearn, J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. med. Genet. 15, 409\u2013413 (1978).","journal-title":"J. med. Genet."},{"key":"BFng1195335_CR3","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.1126\/science.7910982","volume":"264","author":"J Melki","year":"1994","unstructured":"Melki, J. et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474\u20131477 (1994).","journal-title":"Science"},{"key":"BFng1195335_CR4","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155\u2013165 (1995).","journal-title":"Cell"},{"key":"BFng1195335_CR5","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/0960-8966(91)90052-T","volume":"1","author":"TL Munsat","year":"1991","unstructured":"Munsat, T.L. Workshop report: International SMA collaboration. Neuromusc. Disord. 1, 81 (1991).","journal-title":"Neuromusc. Disord."},{"key":"BFng1195335_CR6","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1038\/344540a0","volume":"344","author":"LM Brzustowicz","year":"1990","unstructured":"Brzustowicz, L.M. et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2\u2013q13.3. Nature 344, 540\u2013541 (1990).","journal-title":"Nature"},{"key":"BFng1195335_CR7","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1038\/344767a0","volume":"344","author":"J Melki","year":"1990","unstructured":"Melki, J. et al. Gene for proximal spinal muscular atrophies maps to chromosome 5q. Nature 344, 767\u2013768 (1990).","journal-title":"Nature"},{"key":"BFng1195335_CR8","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","volume":"336","author":"J Melki","year":"1990","unstructured":"Melki, J. et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12\u2013q14. Lancet 336, 271\u2013273 (1990).","journal-title":"Lancet"},{"key":"BFng1195335_CR9","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1038\/345823a0","volume":"345","author":"TC Gilliam","year":"1990","unstructured":"Gilliam, T.C. et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345, 823\u2013825 (1990).","journal-title":"Nature"},{"key":"BFng1195335_CR10","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/ng0195-56","volume":"9","author":"TG Thompson","year":"1995","unstructured":"Thompson, T.G. et al. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nature Genet. 9, 56\u201362 (1995).","journal-title":"Nature Genet."},{"key":"BFng1195335_CR11","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","volume":"80","author":"N Roy","year":"1995","unstructured":"Roy, N. et al. The gene for neuronal apoptosis inhibitory protein (NAIP), a novel protein with homology to baculoviral inhibitors of apoptosis is partially deleted in individuals with type 1,2 and 3 spinal muscular atrophy (SMA). Cell 80, 167\u2013178 (1995).","journal-title":"Cell"},{"key":"BFng1195335_CR12","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1038\/ng0295-112","volume":"9","author":"MS Mahadavan","year":"1995","unstructured":"Mahadavan, M.S., Korneluk, R.G., Roy, N., MacKenzie, A. & Ikeda, J.E. SMA genes: deleted and duplicated. Nature Genet. 9, 112\u2013113 (1995).","journal-title":"Nature Genet."},{"key":"BFng1195335_CR13","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1093\/hmg\/4.4.631","volume":"4","author":"NR Rodrigues","year":"1995","unstructured":"Rodrigues, N.R. et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. molec. Genet. 4, 631\u2013634 (1995).","journal-title":"Hum. molec. Genet."},{"key":"BFng1195335_CR14","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","volume":"345","author":"G Van der Steege","year":"1995","unstructured":"Van der Steege, G. et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345, 985\u2013986 (1995).","journal-title":"Lancet"},{"key":"BFng1195335_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0092-8674(95)90442-5","volume":"80","author":"B Lewin","year":"1995","unstructured":"Lewin, B. Genes for SMA: multum in parvo. Cell 80, 1\u20135 (1995).","journal-title":"Cell"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1195-335","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1195-335.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1195-335.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:19:33Z","timestamp":1684444773000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1195-335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,11]]}},"alternative-id":["BFng1195335"],"URL":"https:\/\/doi.org\/10.1038\/ng1195-335","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11]]}}}