Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort by Laia Brunet Garcia, Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi

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

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POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan by Ameya S Walimbe, Hidehiko Okuma, Soumya Joseph, Tiandi Yang, Takahiro Yonekawa, Jeffrey M Hord, David Venzke, Mary E Anderson, Silvia Torelli, Adnan Manzur, Megan Devereaux, Marco Cuellar, Sally Prouty, Saul Ocampo Landa, Liping Yu, Junyu Xiao, Jack E Dixon, Francesco Muntoni, Kevin P Campbell

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Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study by Francesco Muntoni, James Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H. Niks, Brenda Wong, Krista Vandenborne, Volker Straub, Imelda J. M. de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J. Ward, Laurent Servais

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Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study by Francesco Muntoni, Giovanni Baranello, Pinki Munot, Mariacristina Scoto, Adnan Manzur, Marion Main, Evelin Milev, Lianne Abbott, Victoria Selby, Amy Wolfe, Annemarie Rohwer, Catherine Rye, Sarah Gregson, Grainne NicFhirleinn, Rosanna Raab, Heather McMurchie, Angela Topping, Faye Mason, Jennie Sheehan, Felicity Vann, Steph Wadsworth, José Longatto, Lindsey Pallant, Nick Emery, Jenny Moustoukas, Sarah D’Urso, Kay White, Efthymia Panagiotopoulou

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Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study. by Francesco Muntoni, James Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H Niks, Brenda Wong, Krista Vandenborne, Volker Straub, Imelda J M de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J Ward, Laurent Servais, PRO-DMD-01 study investigators, Association Française contre les Myopathies, UK NorthStar Clinical Network, ImagingDMD investigators, cTAP

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy by Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

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