Associated Papers
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Mastrangelo M et al.
Frontiers in Neurology, 2022
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
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Canafoglia L et al.
Neurology, 2015
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