C. Zühlke, B. Mikat, D. Timmann, D. Wieczorek, G. Gillessen‐Kaesbach, K. Bürk
{"title":"脊髓小脑性共济失调28:一种新的AFG3L2突变,发生在一个德国家庭,发病年轻,进展缓慢,跳跃性减慢","authors":"C. Zühlke, B. Mikat, D. Timmann, D. Wieczorek, G. Gillessen‐Kaesbach, K. Bürk","doi":"10.1186/s40673-015-0038-7","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":36752,"journal":{"name":"Cerebellum and Ataxias","volume":"2 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40673-015-0038-7","citationCount":"22","resultStr":"{\"title\":\"Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing\",\"authors\":\"C. Zühlke, B. Mikat, D. Timmann, D. Wieczorek, G. Gillessen‐Kaesbach, K. Bürk\",\"doi\":\"10.1186/s40673-015-0038-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":36752,\"journal\":{\"name\":\"Cerebellum and Ataxias\",\"volume\":\"2 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1186/s40673-015-0038-7\",\"citationCount\":\"22\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cerebellum and Ataxias\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s40673-015-0038-7\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cerebellum and Ataxias","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s40673-015-0038-7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}