Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

by Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman
Published 2011-02-01

Increased systemic HSP70B levels in spinal muscular atrophy infants

by Eric J. Eichelberger, Christiano R. R. Alves, Ren Zhang, Marco Petrillo, Patrick Cullen, Wildon Farwell, Jessica A. Hurt, John F. Staropoli, Kathryn J. Swoboda
Published 2021-07-01

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

by 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 2012-01-01

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

by 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 2012-01-01

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

by 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 2012-01-01

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

by John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman
Published 2012-01-01