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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Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

By Viscomi Carlo   Spinazzola Antonella   Maggioni Marco   Fernandez-Vizarra Erika   Massa Valeria   Pagano Claudio   Vettor Roberto   Mora Marina   Zeviani Massimo  

Human Molecular Genetics, Vol. 18, Iss. 1, 2009-01 ,pp. : 12-26

Oxford University Press

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Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

By VanCamp G.  

Human Molecular Genetics, Vol. 10, Iss. 3, 2001-02 ,pp. : 195-200

Oxford University Press

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Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy

By Pulkkinen Leena   Smith Frances J. D.   Shimizu Hiroshi   Murata Satoru   Yaoita Hideo   Hachisuka Hiroshi   Nishikawa Takeji   McLean W. H. Irwin   Uitto Jouni  

Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1539-1546

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Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate -secretase activity

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Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3987-3996

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