{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T16:39:35Z","timestamp":1760978375607,"version":"build-2065373602"},"reference-count":38,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,12]]},"DOI":"10.1136\/jmg.39.12.e77","type":"journal-article","created":{"date-parts":[[2002,12,6]],"date-time":"2002-12-06T17:23:47Z","timestamp":1039195427000},"page":"e77-e77","source":"Crossref","is-referenced-by-count":17,"title":["Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree"],"prefix":"10.1136","volume":"39","author":[{"given":"A","family":"Starling","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Rocco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M R","family":"Passos-Bueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Hazan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S K","family":"Marie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Zatz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2002,12,1]]},"reference":[{"key":"2025101714180295000_39.12.e77.1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540310035013"},{"key":"2025101714180295000_39.12.e77.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10551"},{"key":"2025101714180295000_39.12.e77.3","first-page":"1508","volume":"46","year":"1996","journal-title":"Neurology"},{"key":"2025101714180295000_39.12.e77.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.499"},{"key":"2025101714180295000_39.12.e77.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-163"},{"key":"2025101714180295000_39.12.e77.6","first-page":"183","volume":"56","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2025101714180295000_39.12.e77.7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1569"},{"key":"2025101714180295000_39.12.e77.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1867"},{"key":"2025101714180295000_39.12.e77.9","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/ajmg.1320560215","volume":"56","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2025101714180295000_39.12.e77.10","doi-asserted-by":"publisher","DOI":"10.1086\/302258"},{"key":"2025101714180295000_39.12.e77.11","doi-asserted-by":"publisher","DOI":"10.1159\/000006581"},{"key":"2025101714180295000_39.12.e77.12","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1212\/WNL.53.8.1844","volume":"53","year":"1999","journal-title":"Neurology"},{"key":"2025101714180295000_39.12.e77.13","first-page":"A442","volume":"64","year":"1999","journal-title":"Am J Hum Genet"},{"key":"2025101714180295000_39.12.e77.14","doi-asserted-by":"publisher","DOI":"10.1086\/302555"},{"key":"2025101714180295000_39.12.e77.15","doi-asserted-by":"publisher","DOI":"10.1086\/302776"},{"key":"2025101714180295000_39.12.e77.16","doi-asserted-by":"publisher","DOI":"10.1086\/302783"},{"key":"2025101714180295000_39.12.e77.17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.637"},{"key":"2025101714180295000_39.12.e77.18","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200108000-00005"},{"key":"2025101714180295000_39.12.e77.19","doi-asserted-by":"publisher","DOI":"10.1038\/15472"},{"key":"2025101714180295000_39.12.e77.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng758"},{"key":"2025101714180295000_39.12.e77.21","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"2025101714180295000_39.12.e77.22","first-page":"309","volume":"15","year":"1999","journal-title":"Genomics"},{"key":"2025101714180295000_39.12.e77.23","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.759"},{"key":"2025101714180295000_39.12.e77.24","doi-asserted-by":"publisher","DOI":"10.1086\/320111"},{"key":"2025101714180295000_39.12.e77.25","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200528"},{"key":"2025101714180295000_39.12.e77.26","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1212\/WNL.56.11.1482","volume":"56","year":"2001","journal-title":"Neurology"},{"key":"2025101714180295000_39.12.e77.27","doi-asserted-by":"publisher","DOI":"10.1038\/72822"},{"key":"2025101714180295000_39.12.e77.28","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1212\/WNL.55.5.702","volume":"55","year":"2000","journal-title":"Neurology"},{"key":"2025101714180295000_39.12.e77.29","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1811"},{"key":"2025101714180295000_39.12.e77.30","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(99)00946-5"},{"key":"2025101714180295000_39.12.e77.31","first-page":"1510","volume":"54","year":"2001","journal-title":"Neurology"},{"key":"2025101714180295000_39.12.e77.32","doi-asserted-by":"publisher","DOI":"10.1038\/ng0294-117"},{"key":"2025101714180295000_39.12.e77.33","first-page":"173","volume":"33","year":"1996","journal-title":"J Med Genet"},{"key":"2025101714180295000_39.12.e77.34","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<246::AID-AJMG11>3.0.CO;2-G"},{"key":"2025101714180295000_39.12.e77.35","first-page":"730","volume":"58","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025101714180295000_39.12.e77.36","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<155::AID-AJMG9>3.0.CO;2-R"},{"key":"2025101714180295000_39.12.e77.37","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5408.1742"},{"key":"2025101714180295000_39.12.e77.38","doi-asserted-by":"publisher","DOI":"10.1038\/86850"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.39.12.e77","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:18:08Z","timestamp":1760735888000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.39.12.e77"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12]]},"references-count":38,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2002,12,1]]},"published-print":{"date-parts":[[2002,12]]}},"alternative-id":["10.1136\/jmg.39.12.e77"],"URL":"https:\/\/doi.org\/10.1136\/jmg.39.12.e77","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[2002,12]]}}}