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Duchenne muscular dystrophy

Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy

Giorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, Simona Lucibello, Elisabetta Ferraroli, Adele d’Amico, Luca Bello, Elena Pegoraro, Sonia Messina, Federica Ricci, Tiziana Mongini, Angela Berardinelli, Riccardo Masson, Stefano C. Previtali, Grazia D’angelo, Francesca Magri, Giacomo P. Comi, Luisa Politano, Luigia Passamano, Gianluca Vita, Valeria A. Sansone, Emilio Albamonte, Chiara Panicucci, Claudio Bruno, Antonella Pini, Enrico Bertini, Stefano Patarnello, Marika Pane, Eugenio Mercuri, for the italian DMD study group

published 29 Jul 2022

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Bayesian modeling and simulation to inform rare disease drug development early decision-making: Application to Duchenne muscular dystrophy

Janelle L. Lennie, John T. Mondick, Marc R. Gastonguay

published 28 Apr 2022

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Development of a novel startle response task in Duchenne muscular dystrophy

Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil Harrison, William Mandy, David Skuse, Francesco Muntoni

published 19 Apr 2022

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Development of Duchenne Video Assessment scorecards to evaluate ease of movement among those with Duchenne muscular dystrophy

Marielle G. Contesse, Linda P. Lowes, Michelle K. White, Laura Dalle Pazze, Christine McSherry, Lindsay N. Alfano, Megan Iammarino, Natalie Reash, Kelly Bonarrigo, Michael Kiefer, Katie Laubscher, Melissa McIntyre, Shelley Mockler, Leslie Nelson, Leslie Vogel, Mindy G. Leffler

published 13 Apr 2022

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Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy

Rachele Rossi, Mingyan Fang, Lin Zhu, Chongyi Jiang, Cong Yu, Cristina Flesia, Chao Nie, Wenyan Li, Alessandra Ferlini

published 31 Mar 2022

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Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis

Nermina Ferizovic, Jessica Summers, Igor Beitia Ortiz de Zárate, Christian Werner, Joel Jiang, Erik Landfeldt, Katharina Buesch

published 25 Mar 2022

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Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study

UnKyu Yun, Seung-Ah Lee, Won Ah Choi, Seong-Woong Kang, Go Hun Seo, Jung Hwan Lee, Goeun Park, Sujee Lee, Young-Chul Choi, Hyung Jun Park

published 23 Jul 2021

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Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy

Evellyn C. Grilo, Thais A. Cunha, Ádila Danielly S. Costa, Bárbara G. M. Araújo, Márcia Marília G. D. Lopes, Bruna L. L. Maciel, Camila X. Alves, Karina M. Vermeulen-Serpa, Mário Emílio T. Dourado-Júnior, Lucia Leite-Lais, José Brandão-Neto, Sancha Helena L. Vale

published 20 Nov 2020

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Medical management of muscle weakness in Duchenne muscular dystrophy

Sarah R. Rivera, Sumit K. Jhamb, Hoda Z. Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T. Darras, Susan T. Iannaccone, Chamindra G. Konersman, Nancy L. Kuntz, Craig M. McDonald, Julie A. Parsons, Carolina Tesi Rocha, Craig M. Zaidman, Russell J. Butterfield, Anne M. Connolly, Katherine D. Mathews

published 19 Oct 2020

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Test-retest reliability of the Performance of Upper Limb (PUL) module for muscular dystrophy patients

Marta Gandolla, Alberto Antonietti, Valeria Longatelli, Emilia Biffi, Eleonora Diella, Morena Delle Fave, Mauro Rossini, Franco Molteni, Grazia D’Angelo, Marco Bocciolone, Alessandra Pedrocchi

published 28 Sep 2020

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Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay

Pin Lyu, Kyung Whan Yoo, Manish Kumar Yadav, Anthony Atala, Annemieke Aartsma-Rus, Maaike van Putten, Dongsheng Duan, Baisong Lu

published 24 Sep 2020

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Muscle weakness has a limited effect on motor control of gait in Duchenne muscular dystrophy

Ines Vandekerckhove, Nathalie De Beukelaer, Marleen Van den Hauwe, Benjamin R. Shuman, Katherine M. Steele, Anja Van Campenhout, Nathalie Goemans, Kaat Desloovere, Marije Goudriaan

published 02 Sep 2020

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro

published 19 Aug 2020

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