Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesMaria Kousi, Sara Mole|Human Mutation|2011Cited by 333
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga‐Jauregui, James R. Lupski, Tamar Harel et al.|Cell Reports|2015Cited by 247
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement DisorderSaskia B. Wortmann, Ron A. Wevers, G. Herma Renkema et al.|The American Journal of Human Genetics|2015Cited by 135
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Marco Tartaglia, Elisabetta Flex et al.|Neurology|2018Cited by 52