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Muscular dystrophies

Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study

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 , The UK NorthStar Clinical Network , ImagingDMD investigators , cTAP

published 10 Jul 2024

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Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials

Craig M. McDonald, James Signorovitch, Eugenio Mercuri, Erik H. Niks, Brenda Wong, Mirko Fillbrunn, Gautam Sajeev, Erica Yim, Ibrahima Dieye, Debra Miller, Susan J. Ward, Nathalie Goemans, Investigators from the PRO-DMD-01 Study, Collaborative Trajectory Analysis Project (cTAP)

published 03 Jun 2024

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Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

Linda P. Lowes, Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Kathryn Giblin, Larry Hu, Lixi Yu, Shufang Wang, Rachel Salazar, Jerry R. Mendell

published 16 May 2024

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Chloroquine decreases cardiac fibrosis and improves cardiac function in a mouse model of Duchenne muscular dystrophy

Takuya Hirata, Shiro Baba, Kentaro Akagi, Koichi Matsuda, Katsutsugu Umeda, Souichi Adachi, Toshio Heike, Junko Takita

published 31 Jan 2024

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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

Ian R. Woodcock, George Tachas, Nuket Desem, Peter J. Houweling, Michael Kean, Jaiman Emmanuel, Rachel Kennedy, Kate Carroll, Katy de Valle, Justine Adams, Shireen R. Lamandé, Chantal Coles, Chrystal Tiong, Matthew Burton, Daniella Villano, Peter Button, Jean-Yves Hogrel, Sarah Catling-Seyffer, Monique M. Ryan, Martin B. Delatycki, Eppie M. Yiu

published 25 Jan 2024

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Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study

Elise Dupitier, Manon Voisin, Caroline Stalens, Pascal Laforêt, Samuel Pouplin

published 08 Sep 2023

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Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

Massimiliano Orso, Antonio Migliore, Barbara Polistena, Eleonora Russo, Francesca Gatto, Mauro Monterubbianesi, Daniela d’Angela, Federico Spandonaro, Marika Pane

published 27 Jun 2023

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Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy

Vandana Ayyar Gupta, Jacqueline M. Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S. Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y. Manzur, Francesco Muntoni, on behalf of the iMDEX Consortium and the U.K. NorthStar Clinical Network

published 26 Apr 2023

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Antisense oligonucleotides to therapeutically target SARS-CoV-2 infection

Yuanyuan Qiao, Jesse W. Wotring, Charles J. Zhang, Xia Jiang, Lanbo Xiao, Andy Watt, Danielle Gattis, Eli Scandalis, Susan Freier, Yang Zheng, Carla D. Pretto, Stephanie J. Ellison, Eric E. Swayze, Shuling Guo, Jonathan Z. Sexton, Arul M. Chinnaiyan

published 03 Feb 2023

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Ribitol dose-dependently enhances matriglycan expression and improves muscle function with prolonged life span in limb girdle muscular dystrophy 2I mouse model

Bo Wu, Morgan Drains, Sapana N. Shah, Pei Juan Lu, Victoria Leroy, Jessalyn Killilee, Raegan Rawls, Jason D. Tucker, Anthony Blaeser, Qi Long Lu

published 01 Dec 2022

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Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy

Kristy Iskandar, Agung Triono, Sunartini, Ery Kus Dwianingsih, Braghmandita Widya Indraswari, Ignatia Rosalia Kirana, Gabriele Ivana, Retno Sutomo, Suryono Yudha Patria, Elisabeth Siti Herini, Gunadi

published 31 Oct 2022

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Cognitive and behavioral functioning in two neurogenetic disorders; how different are these aspects in Duchenne muscular dystrophy and Neurofibromatosis type 1?

Danique M. J. Hellebrekers, Sandra A. M. van Abeelen, Coriene E. Catsman, Sander M. J. van Kuijk, Annick M. Laridon, Sylvia Klinkenberg, Jos G. M. Hendriksen, Johan S. H. Vles

published 10 Oct 2022

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Objective and subjective measures of sleep in men with Muscular Dystrophy

Christopher I. Morse, Gladys Onambele-Pearson, Bryn Edwards, Sze Choong Wong, Matthew F. Jacques

published 22 Sep 2022

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