Associated Papers
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Ilyas M et al.
Epilepsy Research, 2024
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
Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.
Shademan B et al.
Neuromolecular Medicine, 2021
Genetic variants associated with diseases in Afghan population.
Zadran SK et al.
Molecular Genetics & Genomic Medicine, 2021
33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.
Chin JJ et al.
Molecular Genetics and Metabolism, 2019
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF et al.
Brain : a Journal of Neurology, 2019
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
Faruq M et al.
Clinical Genetics, 2014
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
Andrade DM et al.
Pediatric Neurology, 2012
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