Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon MetabolismJoni Nikkanen, Anu Suomalainen, Antti Sajantila et al.|Cell Metabolism|2016Cited by 293
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B. Haack, Thomas Klopstock, Erika Ignatius et al.|The American Journal of Human Genetics|2016Cited by 121
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkersJana Buzková, Anu Suomalainen, Joni Nikkanen et al.|EMBO Molecular Medicine|2018Cited by 75
Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Philippe M. Campeau, Yoshiko Murakami et al.|The American Journal of Human Genetics|2017Cited by 66
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotypeErika Ignatius, Pirjo Isohanni, Riina Puosi et al.|European Journal of Paediatric Neurology|2021Cited by 14