Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
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
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
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.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
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
Published in PloS one (03.01.2012)
Published in PloS one (03.01.2012)
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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
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
Published in PloS one (05.09.2012)
Published in PloS one (05.09.2012)
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473 CORRELATION OF FLUORESCENCE IN SITU HYBRIDIZATION (FISH) FINDINGS AT ERCP WITH DIAGNOSIS OF BILIARY MALIGNANCY IN PATIENTS WITH AN INDETERMINATE BILIARY STRICTURE: A CASE-CONTROL STUDY
Coppel, Scott H., Gromski, Mark A., Vance, Gail H., Easler, Jeffrey J., Watkins, James L., Fogel, Evan L., Bick, Benjamin L., Lehman, Glen A., Sherman, Stuart
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2020)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2020)
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Correction: Mutations in the Gene Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F. Staropoli, Winnie Xin, Guang Y. Wen, Rosemary Barone, Scott H. Coppel, Katherine Sims, W. Ted Brown, Stephan Züchner
Published in PloS one (01.01.2012)
Published in PloS one (01.01.2012)
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