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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...
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
... for 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
... in the broader context of the NMD research field. Summary: This Editorial summarizes the highlights of DMM's Special Issue ‘A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies’. Disease modelling Muscular dystrophy Neuromuscular disease Rare disease Translational...
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: 6 February 2020
... by the 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: 1 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). © 2019. Published by The Company of Biologists Ltd 2019 This is an Open Access article distributed under...
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: 4 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
... draft: R.M.-G.; Writing - review & editing: R.C.R.P.; Supervision: R.C.R.P.; Project administration: R.C.R.P.; Funding acquisition: R.C.R.P. We thank Joline Dalton and Peter Karachunski from the Wellstone Muscular Dystrophy Center at the University of Minnesota for patient samples...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (6): dmm032201.
Published: 4 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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2014) 7 (8): 997–1004.
Published: 1 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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2014) 7 (7): 739–743.
Published: 1 July 2014
...://creativecommons.org/licenses/by/3.0 ), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. Usher syndrome Cancer Individualized medicine Muscular dystrophy Tuberculosis Since its establishment as a vertebrate model...