A Murine Model of Variant Late Infantile Ceroid Lipofuscinosis Recapitulates Behavioral and Pathological Phenotypes of Human Disease

Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a family of autosomal recessive lysosomal storage disorders. Mutations in as many as 13 genes give rise to ∼10 variants of NCL, all with overlapping clinical symptomatology including visual impairment, motor and cog...

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Autores principales: Morgan, Jeremy P., Magee, Helen, Wong, Andrew, Nelson, Tarah, Koch, Bettina, Cooper, Jonathan D., Weimer, Jill M.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3815212/
https://ncbi.nlm.nih.gov/pubmed/24223841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0078694
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