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Informa Healthcare

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A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

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Retinal Pathology and Function in a Cln3 Knockout Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

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Brain, Vol. 132, Iss. 3, 2009-03 ,pp. : 810-819

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Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

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