Associated Papers
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.
Refeat MM et al.
Neurogenetics, 2023
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Basak I et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.
Luo S et al.
Frontiers in Genetics, 2020
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
Ge L et al.
Journal of Child Neurology, 2018
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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