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X-linked traits

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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A modified diet does not ameliorate muscle pathology in a mouse model for Duchenne muscular dystrophy

Ingrid E. C. Verhaart, Davy van de Vijver, Joke W. Boertje-van der Meulen, Kayleigh Putker, Kevin Adamzek, Annemieke Aartsma-Rus, Maaike van Putten

published 24 Apr 2019

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Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders

Abdallah Fayssoil, Lee S. Nguyen, Adam Ogna, Tanya Stojkovic, Paris Meng, Dominique Mompoint, Robert Carlier, Helene Prigent, Bernard Clair, Anthony Behin, Pascal Laforet, Guillaume Bassez, Pascal Crenn, David Orlikowski, Djillali Annane, Bruno Eymard, Frederic Lofaso

published 24 Apr 2019

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Tempol treatment shows phenotype improvement in mdx mice

Túlio de Almeida Hermes, Rafael Dias Mâncio, Aline Barbosa Macedo, Daniela Sayuri Mizobuti, Guilherme Luiz da Rocha, Valéria Helena Alves Cagnon, Elaine Minatel

published 22 Apr 2019

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Evaluation of intuitive trunk and non-intuitive leg sEMG control interfaces as command input for a 2-D Fitts’s law style task

Stergios Verros, Koen Lucassen, Edsko E. G. Hekman, Arjen Bergsma, Gijsbertus J. Verkerke, Bart F. J. M. Koopman

published 03 Apr 2019

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The intracellular Ca²⁺ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient

Fumitoshi Tsurumi, Shiro Baba, Daisuke Yoshinaga, Katsutsugu Umeda, Takuya Hirata, Junko Takita, Toshio Heike

published 15 Mar 2019

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CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review

Haris Babačić, Aditi Mehta, Olivia Merkel, Benedikt Schoser

published 22 Feb 2019

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Frequency of reported pain in adult males with muscular dystrophy

Matthew F. Jacques, Rachel C. Stockley, Emma I. Bostock, Jonathon Smith, Christian G. DeGoede, Christopher I. Morse

published 14 Feb 2019

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Mapping reduced introgression loci to the X chromosome of the hybridizing field crickets, Gryllus firmus and G. pennsylvanicus

D. Patrick Gainey, Jeremiah Y. Kim, Luana S. Maroja

published 19 Dec 2018

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Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J. Bolz, Peter Charbel Issa

published 13 Dec 2018

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Accelerometric outcomes of motor function related to clinical evaluations and muscle involvement in dystrophic dogs

Mutsuki Kuraoka, Yuko Nitahara-Kasahara, Hisateru Tachimori, Naohiro Kato, Hiroyuki Shibasaki, Akihiko Shin, Yoshitsugu Aoki, En Kimura, Shin’ichi Takeda

published 11 Dec 2018

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A new measure to assess pain in people with haemophilia: The Multidimensional Haemophilia Pain Questionnaire (MHPQ)

Ana Cristina Paredes, Patrício Costa, Armando Almeida, Patrícia R. Pinto

published 28 Nov 2018

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