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

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol

By Saha Arjun   Sarkar Chinmoy   Singh Satya P.   Zhang Zhongjian   Munasinghe Jeeva   Peng Shiyong   Chandra Goutam   Kong Eryan   Mukherjee Anil B.  

Human Molecular Genetics, Vol. 21, Iss. 10, 2012-05 ,pp. : 2233-2244

Oxford University Press

Access to resources Recommend Favorite