Associated Papers
Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid lipofuscinosis (Batten disease).
Barry LA et al.
Plos One, 2022
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
Genetic testing for phenotype-causing variants in sheep and goats.
Lühken G
Molecular and Cellular Probes, 2012
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).
Kay GW et al.
Neurochemistry International, 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
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