Associated Papers
A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.
Chourasia N et al.
Pediatric Neurology, 2024
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.
Santos BV et al.
Neuropediatrics, 2024
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.
Refeat MM et al.
Neurogenetics, 2023
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
Nicolaou P et al.
Frontiers in Genetics, 2021
A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
Sun G et al.
Bmc Medical Genetics, 2018
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Cannelli N et al.
Biochemical and Biophysical Research Communications, 2009
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