Laura M Watts, David J Bunyan, Edoardo Giacopuzzi, Susan Walker, Gabriella Gazdagh, N Simon Thomas, Volker Straub, Anne-Marie Childs, Joan Forsyth, Julie Vogt, Shagufta Khan, Tracey A Willis, Jenny C Taylor, Alistair T Pagnamenta
{"title":"父系 UPD6 导致的 FILIP1 相关神经肌肉疾病和表型混合。","authors":"Laura M Watts, David J Bunyan, Edoardo Giacopuzzi, Susan Walker, Gabriella Gazdagh, N Simon Thomas, Volker Straub, Anne-Marie Childs, Joan Forsyth, Julie Vogt, Shagufta Khan, Tracey A Willis, Jenny C Taylor, Alistair T Pagnamenta","doi":"10.1093/braincomms/fcae330","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 5","pages":"fcae330"},"PeriodicalIF":4.1000,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462438/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.\",\"authors\":\"Laura M Watts, David J Bunyan, Edoardo Giacopuzzi, Susan Walker, Gabriella Gazdagh, N Simon Thomas, Volker Straub, Anne-Marie Childs, Joan Forsyth, Julie Vogt, Shagufta Khan, Tracey A Willis, Jenny C Taylor, Alistair T Pagnamenta\",\"doi\":\"10.1093/braincomms/fcae330\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":93915,\"journal\":{\"name\":\"Brain communications\",\"volume\":\"6 5\",\"pages\":\"fcae330\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2024-09-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462438/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain communications\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/braincomms/fcae330\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain communications","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/braincomms/fcae330","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}