LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

by Dialynas, George, Flannery, Kaitlin M., Zirbel, Luka N., Nagy, Peter L., Mathews, Katherine D., Moore, Steven A., Wallrath, Lori L.
Published 2012

Genotype-phenotype correlations in recessive RYR1-related myopathies

by Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J
Published 2013

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

by Willer, Tobias, Lee, Hane, Lommel, Mark, Yoshida-Moriguchi, Takako, de Bernabe, Daniel Beltran Valero, Venzke, David, Cirak, Sebahattin, Schachter, Harry, Vajsar, Jiri, Voit, Thomas, Muntoni, Francesco, Loder, Andrea S., Dobyns, William B., Winder, Thomas L., Strahl, Sabine, Mathews, Katherine D., Nelson, Stanley F., Moore, Steven A., Campbell, Kevin P.
Published 2012

Frataxin levels in peripheral tissue in Friedreich ataxia

by Lazaropoulos, Michael, Dong, Yina, Clark, Elisia, Greeley, Nathaniel R, Seyer, Lauren A, Brigatti, Karlla W, Christie, Carlton, Perlman, Susan L, Wilmot, George R, Gomez, Christoper M, Mathews, Katherine D, Yoon, Grace, Zesiewicz, Theresa, Hoyle, Chad, Subramony, Sub H, Brocht, Alicia F, Farmer, Jennifer M, Wilson, Robert B, Deutsch, Eric C, Lynch, David R
Published 2015