Associated Papers
Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses.
Simonati A et al.
Developmental Medicine and Child Neurology, 2026
Haploidentical haematopoietic stem cell transplantation combined with post-transplant cyclophosphamide in neuronal ceroid lipofuscinosis: Experience in eight patients.
Song Z et al.
Medicina Clinica, 2024
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses.
Iwan K et al.
Iscience, 2021
Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6.
Katz ML et al.
G3 (bethesda, Md.), 2020
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2019
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
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.
Katz ML et al.
Neurobiology of Disease, 2017
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Canafoglia L et al.
Neurology, 2015
[The canine neuronal ceroid-lipofuscinosis: a review].
Karli P et al.
Schweizer Archiv Fur Tierheilkunde, 2014
Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.
Grubman A et al.
Acta Neuropathologica Communications, 2014
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM et al.
Orphanet Journal of Rare Diseases, 2013
Lethal genetic disorder in Poll Merino/Merino sheep in Australia.
Shariflou MR et al.
Australian Veterinary Journal, 2011
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis.
Katz ML et al.
Journal of Biomedicine & Biotechnology, 2011
Neuronal ceroid lipofuscinoses.
Jalanko A et al.
Biochimica Et Biophysica Acta, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Cannelli N et al.
Biochemical and Biophysical Research Communications, 2009
A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.
Tammen I et al.
Biochimica Et Biophysica Acta, 2006
Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease).
Mitchell NL et al.
Developmental Neurobiology, 0