Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M S, Aygün"'
Autor:
Ö, Öztop-Çakmak, G, Şimşir, Ş, Tekgül, M S, Aygün, O, Gökler, B, Kahyaoğlu, Z E, Kaya, R, Palvadeau, A N, Başak, S, Ertan
Publikováno v:
Revue Neurologique. 178:907-913
VPS13D is a recently described gene. Worldwide, only 15 families with 23 affected individuals have been reported with a VPS13D-based disease. Mutated VPS13D causes a complex phenotype with a hyperkinetic movement disorder and ataxia, especially in ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b197bb67e176c3d534bfa7508f711b51
https://doi.org/10.1016/j.neurol.2022.05.005
https://doi.org/10.1016/j.neurol.2022.05.005
Autor:
Robin Palvadeau, Atay Vural, Sibel Ertan, M S Aygün, Gülşah Şimşir, Gençer Genç, A. Nazli Basak, Z E Kaya-Güleç, Okan Falay, Ö Öztop-Çakmak
Publikováno v:
neurogenetics. 21:51-58
SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Tur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::adbccc68da0ae0c51ee38dcb25439b81
https://doi.org/10.1007/s10048-019-00595-0
https://doi.org/10.1007/s10048-019-00595-0