Search Results - "Kowala, Anna"

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy by Chesshyre, Mary, Ridout, Deborah, Hashimoto, Yasumasa, Ookubo, Yoko, Torelli, Silvia, Maresh, Kate, Ricotti, Valeria, Abbott, Lianne, Gupta, Vandana Ayyar, Main, Marion, Ferrari, Giulia, Kowala, Anna, Lin, Yung‐Yao, Tedesco, Francesco Saverio, Scoto, Mariacristina, Baranello, Giovanni, Manzur, Adnan, Aoki, Yoshitsugu, Muntoni, Francesco

“…Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform…”
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CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model by Morera, Cristina, Kim, Jihee, Paredes-Redondo, Amaia, Nobles, Muriel, Rybin, Denis, Moccia, Robert, Kowala, Anna, Meng, Jinhong, Garren, Seth, Liu, Pentao, Morgan, Jennifer E, Muntoni, Francesco, Christoforou, Nicolas, Owens, Jane, Tinker, Andrew, Lin, Yung-Yao

“…•Generation of an in vitro model of skeletal muscle using an isogenic pair of DMD patient-derived and CRISPR-corrected pluripotent stem cell (PSC)…”
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Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections by Paredes-Redondo, Amaia, Harley, Peter, Maniati, Eleni, Ryan, David, Louzada, Sandra, Meng, Jinhong, Kowala, Anna, Fu, Beiyuan, Yang, Fengtang, Liu, Pentao, Marino, Silvia, Pourquié, Olivier, Muntoni, Francesco, Wang, Jun, Lieberam, Ivo, Lin, Yung-Yao

“…Duchenne muscular dystrophy (DMD) is caused by gene mutations leading to skeletal muscle weakness and wasting. Dystrophin is enriched at the neuromuscular…”
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CRISPR-mediated correction of skeletal muscle Ca 2+ handling in a novel DMD patient-derived pluripotent stem cell model by Morera, Cristina, Kim, Jihee, Paredes-Redondo, Amaia, Nobles, Muriel, Rybin, Denis, Moccia, Robert, Kowala, Anna, Meng, Jinhong, Garren, Seth, Liu, Pentao, Morgan, Jennifer E, Muntoni, Francesco, Christoforou, Nicolas, Owens, Jane, Tinker, Andrew, Lin, Yung-Yao

“…Mutations in the dystrophin gene cause the most common and currently incurable Duchenne muscular dystrophy (DMD) characterized by progressive muscle wasting…”
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