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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.; Houweling, P. J.; Frugier, T.; Mitchell, Nadia L.; Kay, Graham W.; Cavanagh, J. A. L.; Cook, R. W.; Raadsma, H. W.; Palmer, David N. (Elsevier, 2006-10)

The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of fatal recessively inherited neurodegenerative diseases of humans and animals characterised by common clinical signs and pathology. These include ...

Translational neurophysiology in sheep: Measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep

Perentos, N.; Martins, A. Q.; Watson, T. C.; Bartsch, U.; Mitchell, Nadia L.; Palmer, David N.; Jones, M. W.; Morton, A. J. (Oxford University Press on behalf of the Guarantors of Brain, 2015-04-01)

Creating valid mouse models of slowly progressing human neurological diseases is challenging, not least because the short lifespan of rodents confounds realistic modelling of disease time course. With their large brains ...

Rapid and progressive regional brain atrophy in CLN6 batten disease affected sheep measured with longitudinal magnetic resonance imaging

Sawiak, S. J.; Perumal, S. R.; Rudiger, S. R.; Matthews, L.; Mitchell, Nadia L.; McLaughlan, C. J.; Bawden, C. S.; Palmer, David N.; Kuchel, T.; Morton, A. J. (PLoS One, 2015-07-10)

Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration. It starts insidiously ...

Longitudinal in vivo monitoring of the CNS demonstrates the efficacy of gene therapy in a sheep model of CLN5 Batten disease

Mitchell, Nadia L.; Russell, Katharina; Wellby, Martin P.; Wicky, H. E.; Schoderboeck, L.; Barrell, Graham K.; Melzer, T. R.; Gray, S. J.; Hughes, S. M.; Palmer, David N. (Elsevier on behalf of the American Society of Gene and Cell Therapy, 2018-10-03)

Neuronal ceroid lipofuscinoses (NCLs; Batten disease) are neurodegenerative lysosomal storage diseases predominantly affecting children. Single administration of brain-directed lentiviral or recombinant single-stranded ...