Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseAlfredo Ramı́rez, Christian Kubisch, André Heimbach et al.|Nature Genetics|2006Cited by 1.2k
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric PhenotypesHeather C. Mefford, Anja De Coene, Nicole de Leeuw et al.|New England Journal of Medicine|2008Cited by 811
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J. Crow, Andrew P. Jackson, Andrea Leitch et al.|Nature Genetics|2006Cited by 673
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert SyndromeVincent Cantagrel, Joseph G. Gleeson, Jennifer L. Silhavy et al.|The American Journal of Human Genetics|2008Cited by 399
Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replicationPavithra L. Chavali, Fanni Gergely, Lovorka Stojic et al.|Science|2017Cited by 181