Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease von Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.

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Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway von 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

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Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

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LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy von Goddeeris, Matthew M., Wu, Biming, Venzke, David, Yoshida-Moriguchi, Takako, Saito, Fumiaki, Matsumura, Kiichiro, Moore, Steven A., Campbell, Kevin P.

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

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan von Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco

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The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease von Mohar, Nathaniel P, Cox, Efrem M, Adelizzi, Emily, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Wallrath, Lori L

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The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies von Becker, Nicole, Moore, Steven A, Jones, Karra A

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Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21 von Martinez‐Thompson, Jennifer M., Niu, Zhiyv, Tracy, Jennifer A., Moore, Steven A., Swenson, Andrea, Wieben, Eric D., Milone, Margherita

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Sarcolemma-localized nNOS is required to maintain activity after mild exercise von Campbell, Kevin P, Kobayashi, Yvonne M, Rader, Erik P, Crawford, Robert W, Iyengar, Nikhil K, Thedens, Daniel R, Faulkner, John A, Parikh, Swapnesh V, Weiss, Robert M, Chamberlain, Jeffrey S, Moore, Steven A

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Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells von Earle, Ashley J., Kirby, Tyler J., Fedorchak, Gregory R., Isermann, Philipp, Patel, Jineet, Iruvanti, Sushruta, Moore, Steven A., Bonne, Gisèle, Wallrath, Lori L., Lammerding, Jan

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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy von Waldrop, Megan A., Moore, Steven A., Mathews, Katherine D., Darbro, Benjamin W., Medne, Livja, Finkel, Richard, Connolly, Anne M., Crawford, Thomas O., Drachman, Daniel, Wein, Nicolas, Habib, Ali A., Krzesniak‐Swinarska, Monika A., Zaidman, Craig M., Collins, James J., Jokela, Manu, Udd, Bjarne, Day, John W., Ortiz‐Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J., Dunn, Diane M., Weiss, Robert B., Flanigan, Kevin M.

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Ventriculus terminalis cyst in an infant: a case report von Menezes, Arnold H, Sato, Yutaka, Dlouhy, Brian J, Jones, Karra A, Moore, Steven A

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

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Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain von Satz, Jakob S, Ostendorf, Adam P, Hou, Shangwei, Turner, Amy, Kusano, Hajime, Lee, Jane C, Turk, Rolf, Nguyen, Huy, Ross-Barta, Susan E, Westra, Steve, Hoshi, Toshinori, Moore, Steven A, Campbell, Kevin P

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Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice von De la Garza-Rodea, Anabel S, Moore, Steven A, Zamora-Pineda, Jesus, Hoffman, Eric P, Mistry, Karishma, Kumar, Ashok, Strober, Jonathan B, Zhao, Piming, Suh, Jung H, Saba, Julie D

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies von CIRAK, Sebahattin, REGHAN FOLEY, Aileen, ROPER, Helen, LONGMAN, Cheryl, KORINTHENBERG, Rudolf, MARROSU, Gianni, NÜRNBERG, Peter, MICHELE, Daniel E, PLAGNOL, Vincent, HURLES, Matt, MOORE, Steven A, SEWRY, Caroline A, HERRMANN, Ralf, CAMPBELL, Kevin P, VOIT, Thomas, MUNTONI, Francesco, WILLER, Tobias, YAU, Shu, STEVENS, Elizabeth, TORELLI, Silvia, BRODD, Lina, KAMYNINA, Alisa, VONDRACEK, Petr

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Dystroglycan on Radial Glia End Feet Is Required for Pial Basement Membrane Integrity and Columnar Organization of the Developing Cerebral Cortex von Myshrall, Timothy D, Moore, Steven A, Ostendorf, Adam P, Satz, Jakob S, Kowalczyk, Tom, Nguyen, Huy, Daza, Ray A.M, Lau, Charmaine, Campbell, Kevin P, Hevner, Robert F

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Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan von Han, Renzhi, Kanagawa, Motoi, Yoshida-Moriguchi, Takako, Rader, Erik P, Ng, Rainer A, Michele, Daniel E, Muirhead, David E, Kunz, Stefan, Moore, Steven A, Iannaccone, Susan T, Miyake, Katsuya, McNeil, Paul L, Mayer, Ulrike, Oldstone, Michael B.A, Faulkner, John A, Campbell, Kevin P

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies von Campbell, Kevin P, Michele, Daniel E, Barresi, Rita, Kanagawa, Motoi, Saito, Fumiaki, Cohn, Ronald D, Satz, Jakob S, Dollar, James, Nishino, Ichizo, Kelley, Richard I, Somer, Hannu, Straub, Volker, Mathews, Katherine D, Moore, Steven A

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