{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:44:16Z","timestamp":1773787456469,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"vor","delay-in-days":295,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100030902","name":"Martin-Luther-Universit\u00e4t Halle-Wittenberg","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100030902","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Motor neuron diseases (MND) are a group of rare, often severe, and life\u2010limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression. The Department of Neurology at Martin Luther University Halle (Germany) followed a male patient with slowly progressive muscle loss, muscle weakness, and muscle pain in the proximal upper arm and shoulder muscles over a period of 10\u2009years and collected clinical, electrophysiological, neuroradiological, laboratory, and genetic data. Clinical neurological and electrophysiological diagnostics clearly indicated MND. A detailed genetic analysis resulted in the first description of an in\u2010frame mutation (heterozygous, c.5691_5693delGGA) in the\n                    <jats:italic>RYR1<\/jats:italic>\n                    gene (ryanodine receptor 1), which is unknown in MND or\n                    <jats:italic>RYR1<\/jats:italic>\n                    \u2010related neuromuscular disorders. Mutations in\n                    <jats:italic>RYR1<\/jats:italic>\n                    are associated with various motor disabilities due to muscle weakness. The specific role of\n                    <jats:italic>RYR1<\/jats:italic>\n                    mutations in the genetic pathogenesis of MND has never been described before and is currently unknown. This case is the first of its kind demonstrating a\n                    <jats:italic>RYR1<\/jats:italic>\n                    mutation in MND, broadening the spectrum of pathogenetic causes of MND.\n                  <\/jats:p>","DOI":"10.1155\/crnm\/6050078","type":"journal-article","created":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T16:41:33Z","timestamp":1761237693000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["RYR 1 Gene Mutation in Motor Neuron Disease: A 10\u2010Year Case Observation"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9807-6780","authenticated-orcid":false,"given":"Andreas","family":"Posa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3412-3263","authenticated-orcid":false,"given":"Malte","family":"Kornhuber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,23]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjmed.2018.07.012"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-323-62539-5.00040-0"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.71"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2680"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2021-002989"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-996-0024-9"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa311"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1115111108"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.12.005"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.02.005"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6817-7"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-020-00243-4"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2022.11.019"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160199"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.05.016"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.833507"},{"key":"e_1_2_12_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-318704"},{"key":"e_1_2_12_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.17100"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007097"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.2997"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.3390\/life13061301"},{"key":"e_1_2_12_22_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-020-00406-3"}],"container-title":["Case Reports in Neurological Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crnm\/6050078","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crnm\/6050078","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crnm\/6050078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T19:05:59Z","timestamp":1773774359000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crnm\/6050078"}},"subtitle":[],"editor":[{"given":"Dominic B.","family":"Fee","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crnm\/6050078"],"URL":"https:\/\/doi.org\/10.1155\/crnm\/6050078","archive":["Portico"],"relation":{},"ISSN":["2090-6668","2090-6676"],"issn-type":[{"value":"2090-6668","type":"print"},{"value":"2090-6676","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-07-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"6050078"}}