{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T22:25:45Z","timestamp":1790288745733,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["Project 1S10OD018522-01"],"award-info":[{"award-number":["Project 1S10OD018522-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Lung GO Sequencing","award":["Project (HL-102923)"],"award-info":[{"award-number":["Project (HL-102923)"]}]},{"name":"WHI Sequencing","award":["Project (HL-102924)"],"award-info":[{"award-number":["Project (HL-102924)"]}]},{"name":"Broad GO Sequencing","award":["Project (HL-102925)"],"award-info":[{"award-number":["Project (HL-102925)"]}]},{"name":"Seattle GO Sequencing","award":["Project (HL-102926)"],"award-info":[{"award-number":["Project (HL-102926)"]}]},{"name":"Heart GO Sequencing","award":["Project (HL-103010)"],"award-info":[{"award-number":["Project (HL-103010)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes\n                      <jats:italic>TOR1A<\/jats:italic>\n                      (DYT1),\n                      <jats:italic>THAP1<\/jats:italic>\n                      (DYT6),\n                      <jats:italic>TUBB4A<\/jats:italic>\n                      (DYT4), and\n                      <jats:italic>GNAL<\/jats:italic>\n                      (DYT25). Using functional MRI, we explored the influence of the identified mutation on brain activation during symptomatic task production.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 1 patient with laryngeal dystonia who was a\n                      <jats:italic>GNAL<\/jats:italic>\n                      mutation carrier. When compared with 26 patients without known mutations, the\n                      <jats:italic>GNAL<\/jats:italic>\n                      carrier had increased activity in the fronto\u2010parietal cortex and decreased activity in the cerebellum.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our data show that\n                      <jats:italic>GNAL<\/jats:italic>\n                      mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the\n                      <jats:italic>GNAL<\/jats:italic>\n                      carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. \u00a9 2016 International Parkinson and Movement Disorder Society\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.26502","type":"journal-article","created":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T03:03:03Z","timestamp":1454295783000},"page":"750-755","source":"Crossref","is-referenced-by-count":29,"title":["<i>GNAL<\/i>\n                    mutation in isolated laryngeal dystonia"],"prefix":"10.1002","volume":"31","author":[{"given":"Gregory G.","family":"Putzel","sequence":"first","affiliation":[{"name":"Department of Neurology Icahn School of Medicine at Mount Sinai New York New York 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Blitzer","sequence":"additional","affiliation":[{"name":"Department of Neurology Icahn School of Medicine at Mount Sinai New York New York USA"},{"name":"Head and Neck Surgical Group New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Charlestown Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Simonyan","sequence":"additional","affiliation":[{"name":"Department of Neurology Icahn School of Medicine at Mount Sinai New York New York USA"},{"name":"Department of Otolaryngology Icahn School of Medicine at Mount Sinai New York New York 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