Associated Papers
p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.
Onodera M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
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
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C et al.
Journal of Neurology, 2015
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
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form.
Kay C
Clinical Genetics, 2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T et al.
American Journal of Human Genetics, 2011
Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.
Cismondi IA et al.
Human Genetics, 2008
Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.
Cismondi IA et al.
Human Genetics, 2008
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