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

Differential activation of catalase expression and activity by PPAR agonists: Implications for astrocyte protection in anti-glioma therapy☆

by Khoo, Nicholas K.H., Hebbar, Sachin, Zhao, Weiling, Moore, Steven A., Domann, Frederick E., Robbins, Mike E.
Published 2013

Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins

by Nguyen, Huy, Ostendorf, Adam P, Satz, Jakob S, Westra, Steve, Ross-Barta, Susan E, Campbell, Kevin P, Moore, Steven A
Published 2013

Early Progressive Dilated Cardiomyopathy in a Family with Becker Muscular Dystrophy Related to a Novel Frameshift Mutation in the Dystrophin Gene Exon 27

by Tsuda, Takeshi, Fitzgerald, Kristi, Scavena, Mena, Gidding, Samuel, Cox, Mary O., Marks, Harold, Flanigan, Kevin M., Moore, Steven A.
Published 2014

Myopathic Lamin Mutations Cause Reductive Stress and Activate the Nrf2/Keap-1 Pathway

by Dialynas, George, Shrestha, Om K., Ponce, Jessica M., Zwerger, Monika, Thiemann, Dylan A., Young, Grant H., Moore, Steven A., Yu, Liping, Lammerding, Jan, Wallrath, Lori L.
Published 2015

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

by Jerath, Nivedita U., Crockett, Cameron D., Moore, Steven A., Shy, Michael E., Weihl, Conrad C., Chou, Tsui-Fen, Grider, Tiffany, Gonzalez, Michael A., Zuchner, Stephan, Swenson, Andrea
Published 2015

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

by Di Blasi, Claudia, Bellafiore, Emanuela, Salih, Mustafa AM, Manzini, M Chiara, Moore, Steven A, Seidahmed, Mohammed Z, Mukhtar, Maowia M, Karrar, Zein A, Walsh, Christopher A, Campbell, Kevin P, Mantegazza, Renato, Morandi, Lucia, Mora, Marina
Published 2011

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

by Lawlor, Michael W., Beggs, Alan H., Buj-Bello, Ana, Childers, Martin K., Dowling, James J., James, Emma S., Meng, Hui, Moore, Steven A., Prasad, Suyash, Schoser, Benedikt, Sewry, Caroline A.
Published 2016

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

by Al-Zaidy, Samiah A, Malik, Vinod, Kneile, Kelley, Rosales, Xiomara Q, Gomez, Ana Maria, Lewis, Sarah, Hashimoto, Sayaka, Gastier-Foster, Julie, Kang, Peter, Darras, Basil, Kunkel, Louis, Carlo, Jose, Sahenk, Zarife, Moore, Steven A, Pyatt, Robert, Mendell, Jerry R
Published 2015

Progressive Muscular Dystrophy in α-Sarcoglycan–deficient Mice

by Duclos, Franck, Straub, Volker, Moore, Steven A., Venzke, David P., Hrstka, Ron F., Crosbie, Rachelle H., Durbeej, Madeleine, Lebakken, Connie S., Ettinger, Audrey J., van der Meulen, Jack, Holt, Kathleen H., Lim, Leland E., Sanes, Joshua R., Davidson, Beverly L., Faulkner, John A., Williamson, Roger, Campbell, Kevin P.
Published 1998

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

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

by Cirak, Sebahattin, Foley, Aileen Reghan, Herrmann, Ralf, Willer, Tobias, Yau, Shu, Stevens, Elizabeth, Torelli, Silvia, Brodd, Lina, Kamynina, Alisa, Vondracek, Petr, Roper, Helen, Longman, Cheryl, Korinthenberg, Rudolf, Marrosu, Gianni, Nürnberg, Peter, Michele, Daniel E., Plagnol, Vincent, Hurles, Matt, Moore, Steven A., Sewry, Caroline A., Campbell, Kevin P., Voit, Thomas, Muntoni, Francesco
Published 2013

CaMKII determines mitochondrial stress responses in heart

by Joiner, Mei-ling A., Koval, Olha M., Jingdong, Li, He, B. Julie, Allamargot, Chantal, Gao, Zhan, Luczak, Elizabeth D., Hall, Duane D., Fink, Brian D., Chen, Biyi, Yang, Jinying, Moore, Steven A., Scholz, Thomas D., Strack, Stefan, Mohler, Peter J., Sivitz, William I., Song, Long-Sheng, Anderson, Mark E.
Published 2012

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

by Praissman, Jeremy L, Willer, Tobias, Sheikh, M Osman, Toi, Ants, Chitayat, David, Lin, Yung-Yao, Lee, Hane, Stalnaker, Stephanie H, Wang, Shuo, Prabhakar, Pradeep Kumar, Nelson, Stanley F, Stemple, Derek L, Moore, Steven A, Moremen, Kelley W, Campbell, Kevin P, Wells, Lance
Published 2016

Ataluren treatment of patients with nonsense mutation dystrophinopathy

by Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P, Connolly, Anne M, Day, John W, Flanigan, Kevin M, Goemans, Nathalie, Jones, Kristi J, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B, Russman, Barry, Ryan, Monique M, Tulinius, Mar, Voit, Thomas, Moore, Steven A, Lee Sweeney, H, Abresch, Richard T, Coleman, Kim L, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik, Barth, Jay, Elfring, Gary L, Reha, Allen, Spiegel, Robert J, O'donnell, Michael W, Peltz, Stuart W, Mcdonald, Craig M, FOR THE PTC124-GD-007-DMD STUDY GROUP
Published 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

by Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Published 2014