A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Por Johnston, Jennifer J., Sanchez-Contreras, Monica Y., Keppler-Noreuil, Kim M., Sapp, Julie, Crenshaw, Molly, Finch, NiCole A., Cormier-Daire, Valerie, Rademakers, Rosa, Sybert, Virginia P., Biesecker, Leslie G.
Publicado no Am J Hum Genet (2015)

Tremor in progressive supranuclear palsy

Por Fujioka, Shinsuke, Algom, Avi A., Murray, Melissa E., Sanchez-Contreras, Monica Y., Tacik, Pawel, Tsuboi, Yoshio, Van Gerpen, Jay A., Uitti, Ryan J., Rademakers, Rosa, Ross, Owen A., Wszolek, Zbigniew K., Dickson, Dennis W.
Publicado no Parkinsonism Relat Disord (2016)

Three sib-pairs of autopsy-confirmed progressive supranuclear palsy

Por Fujioka, Shinsuke, Sanchez Contreras, Monica Y., Strongosky, Audrey J., Ogaki, Kotaro, Whaley, Nathaniel Robb, Tacik, Pawel M., van Gerpen, Jay A., Uitti, Ryan J, Ross, Owen A., Wszolek, Zbigniew K., Rademakers, Rosa, Dickson, Dennis W.
Publicado no Parkinsonism Relat Disord (2014)

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Por Baker, Matt, Strongosky, Audrey J., Sanchez-Contreras, Monica Y., Yang, Shan, Ferguson, Will, Calne, Donald B., Calne, Susan, Stoessl, A. Jon, Allanson, Judith E., Broderick, Daniel F., Hutton, Michael L., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Rademakers, Rosa
Publicado em 2013