A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

por Knight, Melanie A., Hernandez, Dena, Diede, Scott J., Dauwerse, Hans G., Rafferty, Ian, van de Leemput, Joyce, Forrest, Susan M., Gardner, R.J.McKinlay, Storey, Elsdon, van Ommen, Gert-Jan B., Tapscott, Stephen J., Fischbeck, Kenneth H., Singleton, Andrew B.
Publicado 2008

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

por van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R. J. McKinlay, Forrest, Susan M, Fisher, Elizabeth M. C, Russell, James T, Cai, Huaibin, Singleton, Andrew B
Publicado 2007