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Keywords: Muscular dystrophy
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Journal Articles
Dis Model Mech (2021) 14 (2): dmm047704.
Published: 22 February 2021
... muscular dystrophy (DMD) patients present with dilated cardiomyopathy development, which considerably contributes to morbidity and mortality. Because the mechanisms responsible for the cardiac complications in the context of DMD are largely unknown, evidence-based therapy approaches are still lacking. This...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (9): dmm045369.
Published: 21 September 2020
...Tatianna Wai Ying Wong; Abdalla Ahmed; Grace Yang; Eleonora Maino; Sydney Steiman; Elzbieta Hyatt; Parry Chan; Kyle Lindsay; Nicole Wong; Diane Golebiowski; Joel Schneider; Paul Delgado-Olguín; Evgueni A. Ivakine; Ronald D. Cohn ABSTRACT Duchenne muscular dystrophy (DMD) is a life-threatening...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (6): dmm042986.
Published: 26 June 2020
... organ genesis and maintenance. Disruption of the basal lamina and its functions is central to many disease processes, including cancer metastasis, kidney disease, eye disease, muscular dystrophies and specific types of brain malformation. The latter three pathologies occur in the α-dystroglycanopathies...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (2): dmm044370.
Published: 25 February 2020
... regeneration of skeletal muscle, and highlights the defects in satellite cell function that give rise to muscular dystrophies ( Morgan and Partridge, 2020 ). The accompanying poster, which is available in high resolution ( http://dmm.biologists.org/content/13/2/dmm042192/F1.poster.jpg ), visualizes the...
Journal Articles
Dis Model Mech (2020) 13 (2): dmm043562.
Published: 21 February 2020
...Maaike van Putten; Erin M. Lloyd; Jessica C. de Greef; Vered Raz; Raffaella Willmann; Miranda D. Grounds; Annemieke Aartsma-Rus; James Dowling; Maaike van Putten ABSTRACT Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are characterized by loss of muscle tissue...
Journal Articles
Dis Model Mech (2020) 13 (2): dmm042192.
Published: 06 February 2020
... addition of further precursor cells, called satellite cells, which are also responsible for regeneration following injury. Skeletal muscle regeneration occurs in most muscular dystrophies in response to necrosis of muscle fibres. However, the complex environment within dystrophic skeletal muscle, which...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (2): dmm041673.
Published: 01 October 2019
.... Here, we outline the usefulness, caveats and potential of such models, using the example of the hDMDdel52/ mdx model, a humanized model recently generated for Duchenne muscular dystrophy (DMD). * Author for correspondence ( a.m.rus@lumc.nl ) Competing interests A.A.-R. is employed by Leiden...
Journal Articles
Dis Model Mech (2018) 11 (12): dmm035931.
Published: 19 December 2018
... glycosylation to bind its matrix ligands. A distinct group of muscular dystrophies results from specific hypoglycosylation of αDG, and they are frequently associated with central nervous system involvement, ranging from profound brain malformation to intellectual disability without evident morphological defects...
Journal Articles
Dis Model Mech (2018) 11 (12): dmm036137.
Published: 04 December 2018
...Jennifer E. Hewitt; Amelia K. Pollard; Leila Lesanpezeshki; Colleen S. Deane; Christopher J. Gaffney; Timothy Etheridge; Nathaniel J. Szewczyk; Siva A. Vanapalli ABSTRACT Muscle strength is a key clinical parameter used to monitor the progression of human muscular dystrophies, including Duchenne...
Journal Articles
Dis Model Mech (2018) 11 (7): dmm034728.
Published: 18 July 2018
... proof of principle for the use of myotonic dystrophy 1 patient-specific induced pluripotent stem cells to model muscle pathology in vitro and in drug discovery. Myotonic dystrophy Induced pluripotent stem (iPS) cells Skeletal myogenesis Muscular dystrophy PAX7 RNA foci Myotonic...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (6): dmm032201.
Published: 04 June 2018
...Tingting Sui; Yeh Siang Lau; Di Liu; Tingjun Liu; Li Xu; Yandi Gao; Liangxue Lai; Zhanjun Li; Renzhi Han ABSTRACT Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disorder caused by mutations in the dystrophin gene, with an incidence of 1 in 3500 in new male births. Mdx mice are...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2014) 7 (8): 997–1004.
Published: 01 August 2014
...Chunhui Jiang; Yefei Wen; Kazuki Kuroda; Kevin Hannon; Michael A. Rudnicki; Shihuan Kuang Duchenne muscular dystrophy (DMD) is a devastating disease characterized by muscle wasting, loss of mobility and death in early adulthood. Satellite cells are muscle-resident stem cells responsible for the...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2014) 7 (7): 739–743.
Published: 01 July 2014
... ; Esterberg et al., 2013 ; Gebruers et al., 2013 ; Hao et al., 2013 ; Swartz et al., 2013 ; Wang et al., 2014 ; Westhoff et al., 2013 ) (see poster panel 2). Usher syndrome Cancer Individualized medicine Muscular dystrophy Tuberculosis © 2014. Published by The Company of Biologists Ltd...