{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:55:17Z","timestamp":1792000517114,"version":"4.4.0"},"reference-count":9,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T00:00:00Z","timestamp":1638921600000},"content-version":"vor","delay-in-days":37,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1051\/medsci\/2021196","type":"journal-article","created":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T04:28:39Z","timestamp":1638937719000},"page":"50-52","source":"Crossref","is-referenced-by-count":2,"special_numbering":"Hors s\u00e9rie n\u00b0 1","title":["Un cas de myasth\u00e9nie cong\u00e9nitale des ceintures r\u00e9solu gr\u00e2ce \u00e0 une collaboration tripartite"],"prefix":"10.1051","volume":"37","author":[{"given":"Sonia","family":"Nouioua","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravenscroft","family":"Gianina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sihem","family":"Hellal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tazir","family":"Meriem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Andoni","family":"Urtizberea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"250","published-online":{"date-parts":[[2021,12,8]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.nmd.2014.04.007","volume":"24","author":"Kayman-Kurekci","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"R2","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.nmd.2016.05.013","volume":"26x","author":"Ghaoui","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"R3","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1038\/s41467-019-08493-7","volume":"10","author":"Fichtman","year":"2019","journal-title":"Nat Commun"},{"key":"R4","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1186\/s12891-020-03616-4","volume":"21","author":"Feng","year":"2020","journal-title":"BMC Musculoskelet Disord"},{"key":"R5","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","volume":"28","author":"Straub","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"R6","unstructured":"Gardner-Medwin D.. Clinical experience with the genetic myasthenias. In: Fejerman N, Chamoles NA, eds. New trends in pediatric neurology: proceedings of the 6th congress of the International Child Neurology Association. Amsterdam: Excerpta Medica, 1993: 117\u2013122."},{"key":"R7","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1002\/mus.26676","volume":"60","author":"Nicolau","year":"2019","journal-title":"Muscle Nerve"},{"key":"R8","doi-asserted-by":"crossref","first-page":"fcaa174","DOI":"10.1093\/braincomms\/fcaa174","volume":"2","author":"Cossins","year":"2020","journal-title":"Brain Commun"},{"key":"R9","doi-asserted-by":"crossref","unstructured":"Malfatti E, Catchpool T, Nouioua S et al. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathol Appl Neurobiol 2021; Jun 23. doi: 10.1111\/nan.12743.","DOI":"10.1111\/nan.12743"}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2021196\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T04:30:48Z","timestamp":1638937848000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2021196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":9,"alternative-id":["medsci210196s"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2021196","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11]]}}}