Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

By Ghezzi Daniele   Viscomi Carlo   Ferlini Alessandra   Gualandi Francesca   Mereghetti Paolo   DeGrandis Domenico   Zeviani Massimo  

Human Molecular Genetics, Vol. 18, Iss. 6, 2009-03 ,pp. : 1058-1064

Oxford University Press

Access to resources Recommend Favorite

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase ( GCDH )

By Keyser Britta   Mhlhausen Chris   Dickmanns Achim   Christensen Ernst   Muschol Nicole   Ullrich Kurt   Braulke Thomas  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3854-3863

Oxford University Press

Access to resources Recommend Favorite

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

By Lee Hsien-Yang  

Human Molecular Genetics, Vol. 13, Iss. 24, 2004-12 ,pp. : 3161-3170

Oxford University Press

Access to resources Recommend Favorite

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

Mutations in the palmitoyl-protein thioesterase gene ( PPT ; CLN1 ) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

By Taschner P.E.M.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 291-297

Oxford University Press

Access to resources Recommend Favorite