COL4A2 mutation associated with familial porencephaly and small-vessel diseaseElly Verbeek, Grazia M.S. Mancini, Paul Govaert et al.|European Journal of Human Genetics|2012Cited by 122
RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral CortexSima Kheradmand Kia, Grazia M.S. Mancini, Raymond A. Poot et al.|The American Journal of Human Genetics|2012Cited by 77
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulatedNatalia Yarovaya, Deon J. Venter, Grazia M.S. Mancini et al.|Neurobiology of Disease|2005Cited by 36
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiencyOlivier Dewit, F.W. Verheijen, J G N Huijmans et al.|Molecular Genetics and Metabolism|2005Cited by 32