Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
DJ Birnkrant, K Bushby, CM Bann, BA Alman… - The Lancet …, 2018 - thelancet.com
A coordinated, multidisciplinary approach to care is essential for optimum management of
the primary manifestations and secondary complications of Duchenne muscular dystrophy …
the primary manifestations and secondary complications of Duchenne muscular dystrophy …
Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy
JW McGreevy, CH Hakim… - Disease models & …, 2015 - journals.biologists.com
Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …
Contemporary cardiac issues in Duchenne muscular dystrophy
EM McNally, JR Kaltman, DW Benson, CE Canter… - Circulation, 2015 - Am Heart Assoc
Muscular Dystrophy, convened a Working Group meeting on July 2014, in Bethesda, MD, to
explore clinical and research questions related to cardiac disease in patients with DMD. As …
explore clinical and research questions related to cardiac disease in patients with DMD. As …
Therapeutic exon skipping through a CRISPR-guided cytidine deaminase rescues dystrophic cardiomyopathy in vivo
J Li, K Wang, Y Zhang, T Qi, J Yuan, L Zhang, H Qiu… - Circulation, 2021 - Am Heart Assoc
Background: Loss of dystrophin protein causes Duchenne muscular dystrophy (DMD),
characterized by progressive degeneration of cardiac and skeletal muscles, and mortality in …
characterized by progressive degeneration of cardiac and skeletal muscles, and mortality in …
Dysregulation of calcium homeostasis in muscular dystrophies
A Vallejo-Illarramendi, I Toral-Ojeda… - Expert reviews in …, 2014 - cambridge.org
Muscular dystrophies are a group of diseases characterised by the primary wasting of
skeletal muscle, which compromises patient mobility and in the most severe cases originate …
skeletal muscle, which compromises patient mobility and in the most severe cases originate …
[HTML][HTML] Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes
Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disease that is associated
with severe progressive muscle degeneration culminating in death due to cardiorespiratory …
with severe progressive muscle degeneration culminating in death due to cardiorespiratory …
[HTML][HTML] Inhibition of miR-25 ameliorates cardiac and skeletal muscle dysfunction in aged mdx/utrn haploinsufficient (+/−) mice
SV Kepreotis, JG Oh, M Park, J Yoo, C Lee… - … Therapy-Nucleic Acids, 2024 - cell.com
Dystrophic cardiomyopathy is a significant feature of Duchenne muscular dystrophy (DMD).
Increased cardiomyocyte cytosolic calcium (Ca 2+) and interstitial fibrosis are major …
Increased cardiomyocyte cytosolic calcium (Ca 2+) and interstitial fibrosis are major …
[HTML][HTML] Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy
AN Osorio, JM Cantillo, AC Salas, MM Garrido… - Neurología (English …, 2019 - Elsevier
Introduction Duchenne muscular dystrophy (DMD) is the most common myopathy in
children, with a worldwide prevalence of approximately 0.5 cases per 10 000 male births. It …
children, with a worldwide prevalence of approximately 0.5 cases per 10 000 male births. It …
Nanopatterned human iPSC-based model of a dystrophin-null cardiomyopathic phenotype
J Macadangdang, X Guan, AST Smith, R Lucero… - Cellular and molecular …, 2015 - Springer
Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) offer
unprecedented opportunities to study inherited heart conditions in vitro, but are …
unprecedented opportunities to study inherited heart conditions in vitro, but are …
[HTML][HTML] X-linked dilated cardiomyopathy: a cardiospecific phenotype of dystrophinopathy
A Nakamura - Pharmaceuticals, 2015 - mdpi.com
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy
characterized by preferential cardiac involvement without any overt skeletal myopathy …
characterized by preferential cardiac involvement without any overt skeletal myopathy …