巩固TDP2突变在儿童发病的耐药癫痫和智力残疾(SCAR23)相关的隐性脊髓小脑性共济失调中的作用

{"title":"巩固TDP2突变在儿童发病的耐药癫痫和智力残疾(SCAR23)相关的隐性脊髓小脑性共济失调中的作用","authors":"C. Ciaccio, R. Castello, S. Esposito, M. Pinelli, V. Nigro, G. Casari, L. Chiapparini, C. Pantaleoni, Annalaura Gerarda Francesco Margherita Diego Giuseppina Gian Torella Cappuccio Musacchia Mutarelli Carrella Vit, A. Torella, G. Cappuccio, F. Musacchia, M. Mutarelli, D. Carrella, G. Vitiello, G. Parenti, V. Capra, V. Leuzzi, A. Selicorni, S. Maitz, N. Brunetti‐Pierri, S. Banfi, M. Zollino, Martino Montomoli, D. Milani, C. Romano, A. Tummolo, D. De Brasi, A. Coppola, C. Santoro, S. D'Arrigo","doi":"10.1007/s12311-019-01069-7","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":"22 1","pages":"972 - 975"},"PeriodicalIF":0.0000,"publicationDate":"2019-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"11","resultStr":"{\"title\":\"Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)\",\"authors\":\"C. Ciaccio, R. Castello, S. Esposito, M. Pinelli, V. Nigro, G. Casari, L. Chiapparini, C. Pantaleoni, Annalaura Gerarda Francesco Margherita Diego Giuseppina Gian Torella Cappuccio Musacchia Mutarelli Carrella Vit, A. Torella, G. Cappuccio, F. Musacchia, M. Mutarelli, D. Carrella, G. Vitiello, G. Parenti, V. Capra, V. Leuzzi, A. Selicorni, S. Maitz, N. Brunetti‐Pierri, S. Banfi, M. Zollino, Martino Montomoli, D. Milani, C. Romano, A. Tummolo, D. De Brasi, A. Coppola, C. Santoro, S. D'Arrigo\",\"doi\":\"10.1007/s12311-019-01069-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":22415,\"journal\":{\"name\":\"The Cerebellum\",\"volume\":\"22 1\",\"pages\":\"972 - 975\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-08-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"11\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Cerebellum\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12311-019-01069-7\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Cerebellum","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12311-019-01069-7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}