Peptide-conjugate antisense based splice-correction for Duchenne muscular dystrophy and other neuromuscular diseases

MK Tsoumpra, S Fukumoto, T Matsumoto, S Takeda… - …, 2019 - thelancet.com
Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive
muscle degeneration, caused by the absence of dystrophin. Exon skipping by antisense …

Duchenne dilated cardiomyopathy: cardiac management from prevention to advanced cardiovascular therapies

R Adorisio, E Mencarelli, N Cantarutti… - Journal of clinical …, 2020 - mdpi.com
Duchenne muscular dystrophy (DMD) cardiomyopathy (DCM) is characterized by a
hypokinetic, dilated phenotype progressively increasing with age. Regular cardiac care is …

Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52

M Stirm, B Shashikadze, A Blutke… - Proceedings of the …, 2023 - National Acad Sciences
Duchenne muscular dystrophy (DMD) is a fatal X-linked disease caused by mutations in the
DMD gene, leading to complete absence of dystrophin and progressive degeneration of …

Targeting angiogenesis in Duchenne muscular dystrophy

P Podkalicka, O Mucha, J Dulak, A Loboda - Cellular and Molecular Life …, 2019 - Springer
Duchenne muscular dystrophy (DMD) represents one of the most devastating types of
muscular dystrophies which affect boys already at early childhood. Despite the fact that the …

Clinical management of Duchenne muscular dystrophy: the state of the art

S Messina, GL Vita - Neurological Sciences, 2018 - Springer
Introduction Duchenne muscular dystrophy (DMD) is a devastating, progressive
neuromuscular disorder for which there is no cure. As the dystrophin gene is located on the …

CD38‐NADase is a new major contributor to Duchenne muscular dystrophic phenotype

A de Zélicourt, A Fayssoil… - EMBO molecular …, 2022 - embopress.org
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration.
Two important deleterious features are a Ca2+ dysregulation linked to Ca2+ influxes …

Calcium handling maturation and adaptation to increased substrate stiffness in human iPSC-derived cardiomyocytes: The impact of full-length dystrophin deficiency

JM Pioner, L Santini, C Palandri, M Langione… - Frontiers in …, 2022 - frontiersin.org
Cardiomyocytes differentiated from human induced Pluripotent Stem Cells (hiPSC-CMs) are
a unique source for modelling inherited cardiomyopathies. In particular, the possibility of …

Mental health and coping strategies in families of children and young adults with muscular dystrophies

A Tesei, M Nobile, P Colombo, F Civati… - Journal of …, 2020 - Springer
Background Living with a progressive disease as muscular dystrophy (MD) can be
challenging for the patient and the entire family from both emotional and practical point of …

Preliminary evidences of safety and efficacy of flavonoids-And omega 3-based compound for muscular dystrophies treatment: a randomized double-blind placebo …

C Sitzia, M Meregalli, M Belicchi, A Farini… - Frontiers in …, 2019 - frontiersin.org
Background: Nutritional compounds can exert both anti-inflammatory and anti-oxidant
effects. Since these events exacerbate the pathophysiology of muscular dystrophies, we …

Functional and clinical outcomes associated with steroid treatment among non-ambulatory patients with Duchenne muscular dystrophy

CM McDonald, OH Mayer, KN Hor… - Journal of …, 2023 - journals.sagepub.com
Background: Evidence on the long-term efficacy of steroids in Duchenne muscular dystrophy
(DMD) after loss of ambulation is limited. Objective: Characterize and compare disease …