A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

By Kopra Outi  

Human Molecular Genetics, Vol. 13, Iss. 23, 2004-12 ,pp. : 2893-2906

Oxford University Press

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Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes

By Steinfeld Robert  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2483-2491

Oxford University Press

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Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis

By Das A.K.   Lu J-Y.   Hofmann S.L.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1431-1439

Oxford University Press

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Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

By Sharifi A.   Kousi M.   Sagn C.   Bellenchi G.C.   Morel L.   Darmon M.   Hlkov H.   Ruivo R.   Debacker C.   El Mestikawy S.   Elleder M.   Lehesjoki A.-E.   Jalanko A.   Gasnier B.   Kyttl A.  

Human Molecular Genetics, Vol. 19, Iss. 22, 2010-11 ,pp. : 4497-4514

Oxford University Press

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Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23

By Sharp J. D.   Wheeler R. B.   Lake B. D.   Savukoski M.   Järvelä I. E.   Peltonen L.   Gardiner R. M.   Williams R. E.  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 591-595

Oxford University Press

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