Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

nork Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Argitaratua 2012

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

nork Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Argitaratua 2012

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

nork Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.
Argitaratua 2012

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

nork Lojewski, Xenia, Staropoli, John F., Biswas-Legrand, Sunita, Simas, Alexandra M., Haliw, Larissa, Selig, Martin K., Coppel, Scott H., Goss, Kendrick A., Petcherski, Anton, Chandrachud, Uma, Sheridan, Steven D., Lucente, Diane, Sims, Katherine B., Gusella, James F., Sondhi, Dolan, Crystal, Ronald G., Reinhardt, Peter, Sterneckert, Jared, Schöler, Hans, Haggarty, Stephen J., Storch, Alexander, Hermann, Andreas, Cotman, Susan L.
Argitaratua 2014