Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
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.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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Diagnostic approach to the congenital muscular dystrophies
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
Published in Neuromuscular disorders : NMD (01.04.2014)
Published in Neuromuscular disorders : NMD (01.04.2014)
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Conference Proceeding
LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy
Goddeeris, Matthew M, Wu, Biming, Venzke, David, Yoshida-Moriguchi, Takako, Saito, Fumiaki, Matsumura, Kiichiro, Moore, Steven A, Campbell, Kevin P
Published in Nature (London) (07.11.2013)
Published in Nature (London) (07.11.2013)
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Journal Article
Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway
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 in PLoS genetics (01.05.2015)
Published in PLoS genetics (01.05.2015)
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Journal Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
WILLER, Tobias, LEE, Hane, 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, LOMMEL, Mark, YOSHIDA-MORIGUCHI, Takako, BERNABE, Daniel Beltran Valero De, VENZKE, David, CIRAK, Sebahattin, SCHACHTER, Harry, VAJSAR, Jiri, VOIT, Thomas
Published in Nature genetics (01.05.2012)
Published in Nature genetics (01.05.2012)
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Journal Article
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
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
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease
Mohar, Nathaniel P, Cox, Efrem M, Adelizzi, Emily, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Wallrath, Lori L
Published in International journal of molecular sciences (01.05.2024)
Published in International journal of molecular sciences (01.05.2024)
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Journal Article
Sarcolemma-localized nNOS is required to maintain activity after mild exercise
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
Published in Nature (27.11.2008)
Published in Nature (27.11.2008)
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Journal Article
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy
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.
Published in Human mutation (01.04.2022)
Published in Human mutation (01.04.2022)
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Journal Article
Ventriculus terminalis cyst in an infant: a case report
Menezes, Arnold H, Sato, Yutaka, Dlouhy, Brian J, Jones, Karra A, Moore, Steven A
Published in Journal of medical case reports (23.01.2023)
Published in Journal of medical case reports (23.01.2023)
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Journal Article
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition
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 in eLife (29.04.2016)
Published in eLife (29.04.2016)
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Journal Article
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells
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
Published in Nature materials (01.04.2020)
Published in Nature materials (01.04.2020)
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Journal Article
Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain
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
Published in The Journal of neuroscience (27.10.2010)
Published in The Journal of neuroscience (27.10.2010)
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Journal Article
Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice
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
Published in International journal of molecular sciences (08.07.2022)
Published in International journal of molecular sciences (08.07.2022)
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Journal Article
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
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
Published in Brain (London, England : 1878) (2013)
Published in Brain (London, England : 1878) (2013)
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Journal Article
Dystroglycan on Radial Glia End Feet Is Required for Pial Basement Membrane Integrity and Columnar Organization of the Developing Cerebral Cortex
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
Published in Journal of neuropathology and experimental neurology (01.12.2012)
Published in Journal of neuropathology and experimental neurology (01.12.2012)
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Journal Article
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan
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
Published in Proceedings of the National Academy of Sciences - PNAS (04.08.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (04.08.2009)
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Journal Article
Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice
Han, Renzhi, Frett, Ellie M, Levy, Jennifer R, Rader, Erik P, Lueck, John D, Bansal, Dimple, Moore, Steven A, Ng, Rainer, Beltrán-Valero de Bernabé, Daniel, Faulkner, John A, Campbell, Kevin P
Published in The Journal of clinical investigation (01.12.2010)
Published in The Journal of clinical investigation (01.12.2010)
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Journal Article
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
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
Published in Nature (London) (25.07.2002)
Published in Nature (London) (25.07.2002)
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