Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
, 2013 Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
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Stem Cell Research, 2022 LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui +5 more
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Skeletal muscle in health and disease
Disease Models & Mechanisms, 2020 Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (i.e. they are no longer able to divide) and perform muscle contraction.
Jennifer Morgan, Terence Partridge
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Psychosis in a Patient with Muscular Dystrophy : Case Report and Literature Review
European Psychiatry, 2023 Introduction Knowledge about muscular dystrophies and in particular X-linked inherited disorders such as Duchenne and Becker Muscular Dystrophy has been gradually acquired as more research studies have been conducted to better understand the ...
O. Ali, H. Raai
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Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy [PDF]
, 2018 Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by ...
Díaz Manera, Jordi +6 more
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Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]
, 2020 Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan +2 more
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Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]
, 2016 Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly +7 more
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An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]
, 2013 Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene +11 more
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Facioscapulohumeral Muscular Dystrophy [PDF]
Neurologic Clinics, 2014 This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey, Statland, Rabi, Tawil
openaire +4 more sources