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Duchenne muscular dystrophy

Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar, Kalpana Athimoolam, Manikandan Suraj, Mary Shoba Das Christu Das, Aparna Muralidharan, Divya Jeyam, Jaicy Ashokan, Priya Karthikeyan, Ragav Krishna, Arati Khanna-Gupta, Lakshmi Bremadesam Raman

published 19 Jun 2020

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Prognostic factors for changes in the timed 4-stair climb in patients with Duchenne muscular dystrophy, and implications for measuring drug efficacy: A multi-institutional collaboration

Nathalie Goemans, Brenda Wong, Marleen Van den Hauwe, James Signorovitch, Gautam Sajeev, David Cox, John Landry, Madeline Jenkins, Ibrahima Dieye, Zhiwen Yao, Intekhab Hossain, Susan J. Ward, the Collaborative Trajectory Analysis Project (cTAP)

published 18 Jun 2020

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Urinary incontinence in men with Duchenne and Becker muscular dystrophy

Christopher I. Morse, Katie Higham, Emma L. Bostock, Matthew F. Jacques

published 29 May 2020

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A new linear regression-like residual for survival analysis, with application to genome wide association studies of time-to-event data

Veronica J. Vieland, Sang-Cheol Seok, William C. L. Stewart

published 04 May 2020

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Characterization of brain dystrophins absence and impact in dystrophin-deficient Dmdmdx rat model

Dorian Caudal, Virginie François, Aude Lafoux, Mireille Ledevin, Ignacio Anegon, Caroline Le Guiner, Thibaut Larcher, Corinne Huchet

published 11 Mar 2020

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Evaluation of the cognitive-motor performance of adults with Duchenne Muscular Dystrophy in a hand-related task

Kostas Nizamis, Wouter Schutte, Jan J. Grutters, Jasper Goseling, Noortje H. M. Rijken, Bart F. J. M. Koopman

published 31 Jan 2020

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Diagnostic differences in respiratory breathing patterns and work of breathing indices in children with Duchenne muscular dystrophy

Lauren Ryan, Tariq Rahman, Abigail Strang, Robert Heinle, Thomas H. Shaffer

published 10 Jan 2020

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Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

Francesco Muntoni, Joana Domingos, Adnan Y. Manzur, Anna Mayhew, Michela Guglieri, The UK NorthStar Network , Gautam Sajeev, James Signorovitch, Susan J. Ward

published 03 Sep 2019

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Investigating the clinical use of structured light plethysmography to assess lung function in children with neuromuscular disorders

Deborah Fleck, Chistopher Curry, Kate Donnan, Orla Logue, Kathryn Graham, Kate Jackson, Karen Keown, John Winder, Michael D. Shields, Ciara M. Hughes

published 26 Aug 2019

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Discovery of potential urine-accessible metabolite biomarkers associated with muscle disease and corticosteroid response in the mdx mouse model for Duchenne

Mathula Thangarajh, Aiping Zhang, Kirandeep Gill, Habtom W. Ressom, Zhenzhi Li, Rency S. Varghese, Eric P. Hoffman, Kanneboyina Nagaraju, Yetrib Hathout, Simina M. Boca

published 16 Jul 2019

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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D’Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C. Previtali, Luisa Politano, Giacomo P. Comi, Valeria A. Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group

published 25 Jun 2019

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A standardised framework to identify optimal animal models for efficacy assessment in drug development

Guilherme S. Ferreira, Désirée H. Veening-Griffioen, Wouter P. C. Boon, Ellen H. M. Moors, Christine C. Gispen-de Wied, Huub Schellekens, Peter J. K. van Meer

published 13 Jun 2019

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Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents

Holly Landrum Peay, Ryan Fischer, Janice P. Tzeng, Sharon E. Hesterlee, Carl Morris, Amy Strong Martin, Colin Rensch, Edward Smith, Valeria Ricotti, Katherine Beaverson, Hannah Wand, Carol Mansfield

published 01 May 2019

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