Associated Papers
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.
Malik D et al.
Genes and Immunity, 2022
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM et al.
Orphanet Journal of Rare Diseases, 2022
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
DaRe JT et al.
Bmc Medical Genetics, 2013
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
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