1 | FAT2, SCA45 |
Hereditary ataxias and paraparesias: clinical and genetic update.2018 PMID: | |
Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. | |
Curr Opin Neurol. Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585. 2018 | |
2 | FAT2, PLD3, SCA45, SCA46 |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia | |
Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS | |
Brain Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251 2017 | |