{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T00:52:17Z","timestamp":1792716737531,"version":"4.5.0"},"reference-count":51,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6170","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2014,1,31]]},"abstract":"<jats:title>Neurodegenerative Genetics<\/jats:title>\n                  <jats:p>\n                    The underlying genetics of neurodegenerative disorders tend not to be well understood.\n                    <jats:bold>\n                      Novarino\n                      <jats:italic>et al.<\/jats:italic>\n                    <\/jats:bold>\n                    (p.\n                    <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6170\" page=\"506\" related-article-type=\"in-this-issue\" vol=\"343\" xlink:href=\"10.1126\/science.1247363\">506<\/jats:related-article>\n                    ; see the Perspective by\n                    <jats:bold>\n                      <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6170\" page=\"497\" related-article-type=\"in-this-issue\" vol=\"343\" xlink:href=\"10.1126\/science.1250172\">Singleton<\/jats:related-article>\n                    <\/jats:bold>\n                    ) investigated the underlying genetics of hereditary spastic paraplegia (HSP), a human neurodegenerative disease, by sequencing the exomes of individuals with recessive neurological disorders. Loss-of-function gene mutations in both novel genes and genes previously implicated for this condition were identified, and several were functionally validated.\n                  <\/jats:p>","DOI":"10.1126\/science.1247363","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T15:36:18Z","timestamp":1391096178000},"page":"506-511","source":"Crossref","is-referenced-by-count":514,"title":["Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders"],"prefix":"10.1126","volume":"343","author":[{"given":"Gaia","family":"Novarino","sequence":"first","affiliation":[{"name":"Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali G.","family":"Fenstermaker","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matan","family":"Hofree","sequence":"additional","affiliation":[{"name":"Department of Computer Science and Engineering and Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Silhavy","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew D.","family":"Heiberg","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Abdellateef","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basak","family":"Rosti","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Scott","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lobna","family":"Mansour","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Neurometabolic Unit, Cairo University Children\u2019s Hospital, Cairo 406, Egypt."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amira","family":"Masri","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics, University of Jordan, Amman 11942, Jordan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Istanbul University, Istanbul Medical Faculty, Medical Genetics Department, 34093 Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jumana Y.","family":"Al-Aama","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M. 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