{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T08:59:15Z","timestamp":1768035555928,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T00:00:00Z","timestamp":1247788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Amyotrophic lateral sclerosis (ALS) is a progressive degenerative neuromuscular disease that presents with upper and lower motor neuron signs. Although the majority of ALS cases are sporadic, 10% are familial, of which 20%\u201325% result from mutations in the superoxide dismutase (<jats:italic>SOD1<\/jats:italic>) gene. We describe a novel case of <jats:italic>SOD1<\/jats:italic> (A4V)\u2010mediated ALS that presented with lower motor neuron facial diplegia and unilateral vocal cord paralysis. This case expands the phenotypic expression of the A4V mutation. Muscle Nerve, 2009<\/jats:p>","DOI":"10.1002\/mus.21321","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T19:10:03Z","timestamp":1247857803000},"page":"880-882","source":"Crossref","is-referenced-by-count":14,"title":["SOD1 (A4V)\u2010mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis"],"prefix":"10.1002","volume":"40","author":[{"given":"Johnny S.","family":"Salameh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nazem","family":"Atassi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William S.","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,17]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-996-0008-9"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.10.1723"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1080\/14660820310011700"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2007.11.004"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410212"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430604"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<117::AID-AJMG7>3.0.CO;2-C"},{"key":"e_1_2_5_9_2","first-page":"15","volume-title":"Human motor neuron diseases","author":"Mulder D","year":"1982"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.12.026"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00240-7"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20468"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/362059a0"},{"key":"e_1_2_5_14_2","first-page":"1","article-title":"Brown\u2010Vialetto\u2010Van Laere syndrome","volume":"17","author":"Sathasivam S","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010051146"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21321","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21321","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T12:04:02Z","timestamp":1696939442000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,17]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["10.1002\/mus.21321"],"URL":"https:\/\/doi.org\/10.1002\/mus.21321","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,17]]}}}