Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

By Fonknechten Nùria  

Human Molecular Genetics, Vol. 9, Iss. 4, 2000-03 ,pp. : 637-644

Oxford University Press

Access to resources Recommend Favorite

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

By Fonknechten Nùria   Mavel Delphine   Byrne Paula   Davoine Claire-Sophie   Cruaud Corinne   Bönsch Dominikus   Samson Delphine   Coutinho Paula   Hutchinson Michael   McMonagle Paul   Burgunder Jean-Marc   Tartaglione Antonio   Heinzlef Olivier   Feki Imed   Deufel Thomas   Parfrey Nollaig   Brice Alexis   Fontaine Bertrand   Prud'homme Jean-François   Weissenbach Jean   Dürr Alexandra   Hazan Jamilé  

Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 461-461

Oxford University Press

Access to resources Recommend Favorite

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

By Charvin Delphine  

Human Molecular Genetics, Vol. 12, Iss. 1, 2003-01 ,pp. : 71-78

Oxford University Press

Access to resources Recommend Favorite

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

By Tsang Hilda T.H.   Edwards Thomas L.   Wang Xinnan   Connell James W.   Davies Rachel J.   Durrington Hannah J.   O'Kane Cahir J.   Luzio J. Paul   Reid Evan  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3805-3821

Oxford University Press

Access to resources Recommend Favorite

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B

By Reid Evan  

Human Molecular Genetics, Vol. 14, Iss. 1, 2005-01 ,pp. : 19-38

Oxford University Press

Access to resources Recommend Favorite