Distinct pathological phenotypes of Creutzfeldt-Jakob disease in recipients of prion-contaminated growth hormone

by Cali, Ignazio, Miller, Cathleen J., Parisi, Joseph E., Geschwind, Michael D., Gambetti, Pierluigi, Schonberger, Lawrence B.
Published 2015

Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

by Kim, Mee-Ohk, Cali, Ignazio, Oehler, Abby, Fong, Jamie C, Wong, Katherine, See, Tricia, Katz, Jonathan S, Gambetti, Pierluigi, Bettcher, Brianne M, DeArmond, Stephen J, Geschwind, Michael D
Published 2013

An Epigenetic Signature in Peripheral Blood Associated with the Haplotype on 17q21.31, a Risk Factor for Neurodegenerative Tauopathy

by Li, Yun, Chen, Jason A., Sears, Renee L., Gao, Fuying, Klein, Eric D., Karydas, Anna, Geschwind, Michael D., Rosen, Howard J., Boxer, Adam L., Guo, Weilong, Pellegrini, Matteo, Horvath, Steve, Miller, Bruce L., Geschwind, Daniel H., Coppola, Giovanni
Published 2014

MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations

by Biswas, Md Helal U., Almeida, Sandra, Lopez-Gonzalez, Rodrigo, Mao, Wenjie, Zhang, Zhijun, Karydas, Anna, Geschwind, Michael D., Biernat, Jacek, Mandelkow, Eva-Maria, Futai, Kensuke, Miller, Bruce L., Gao, Fen-Biao
Published 2016

White matter involvement in sporadic Creutzfeldt-Jakob disease

by Caverzasi, Eduardo, Mandelli, Maria Luisa, DeArmond, Stephen J., Hess, Christopher P., Vitali, Paolo, Papinutto, Nico, Oehler, Abby, Miller, Bruce L., Lobach, Irina V., Bastianello, Stefano, Geschwind, Michael D., Henry, Roland G.
Published 2014

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study

by Ashizawa, Tetsuo, Figueroa, Karla P, Perlman, Susan L, Gomez, Christopher M, Wilmot, George R, Schmahmann, Jeremy D, Ying, Sarah H, Zesiewicz, Theresa A, Paulson, Henry L, Shakkottai, Vikram G, Bushara, Khalaf O, Kuo, Sheng-Han, Geschwind, Michael D, Xia, Guangbin, Mazzoni, Pietro, Krischer, Jeffrey P, Cuthbertson, David, Holbert, Amy Roberts, Ferguson, John H, Pulst, Stefan M, Subramony, SH
Published 2013

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

by Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Published 2011