{"title":"因 c.1189 + 1G > T(剪接供体)TBK1 基因突变导致渐冻人症。","authors":"Francisco De Assis Aquino Gondim, José Marcelino Aragão Fernandes","doi":"10.1080/21678421.2024.2421754","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"180"},"PeriodicalIF":0.0000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"ALS due to c.1189 + 1G > T (splice donor) TBK1 mutation.\",\"authors\":\"Francisco De Assis Aquino Gondim, José Marcelino Aragão Fernandes\",\"doi\":\"10.1080/21678421.2024.2421754\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":72184,\"journal\":{\"name\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"volume\":\" \",\"pages\":\"180\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/21678421.2024.2421754\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Amyotrophic lateral sclerosis & frontotemporal degeneration","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/21678421.2024.2421754","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/26 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0