Associated Papers
An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.
Cocostîrc V et al.
Animals : an Open Access Journal From Mdpi, 2023
Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis.
Kick GR et al.
Experimental Eye Research, 2023
Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant.
Guo J et al.
Molecular Genetics and Metabolism Reports, 2019
Neurofilament light is a treatment-responsive biomarker in CLN2 disease.
Ru Y et al.
Annals of Clinical and Translational Neurology, 2019
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.
Katz ML et al.
Neurobiology of Disease, 2017
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression.
Katz ML et al.
Gene Therapy, 2017
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis.
Tracy CJ et al.
Experimental Eye Research, 2016
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.
Kolicheski A et al.
Journal of Veterinary Internal Medicine, 2016
Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease.
Whiting REH et al.
Experimental Eye Research, 2016
Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
Whiting RE et al.
Experimental Eye Research, 2015
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.
Awano T et al.
Molecular Genetics and Metabolism, 2006
Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.
Gilliam D et al.
Molecular Genetics and Metabolism, 0
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