Associated Papers
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
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Canafoglia L et al.
Neurology, 2015
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM et al.
Orphanet Journal of Rare Diseases, 2013
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
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M et al.
Brain : a Journal of Neurology, 2009
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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