F. Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, A. Seibt, A. Gangfuss, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, S. Nikolin, Joachim Weis, Andreas Roos, Tobias B. Haack
{"title":"PACSIN3 的双叶截短变体会导致伴有高钾血症的儿童型肌病。","authors":"F. Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, A. Seibt, A. Gangfuss, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, S. Nikolin, Joachim Weis, Andreas Roos, Tobias B. Haack","doi":"10.1093/brain/awae099","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":121505,"journal":{"name":"Brain : a journal of neurology","volume":" 8","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.\",\"authors\":\"F. Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, A. Seibt, A. Gangfuss, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, S. Nikolin, Joachim Weis, Andreas Roos, Tobias B. Haack\",\"doi\":\"10.1093/brain/awae099\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":121505,\"journal\":{\"name\":\"Brain : a journal of neurology\",\"volume\":\" 8\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-04-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain : a journal of neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/brain/awae099\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain : a journal of neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/brain/awae099","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}