Results 11 to 20 of about 182,997 (357)
Orphanet Journal of Rare Diseases, 2019 Background Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their ...
Brian Denger +5 more
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Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]
, 2017 Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura +4 more
core +3 more sources
BMC Neurology, 2019 Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US males ...
Leslie Cowen +4 more
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Molecular Therapy: Methods & Clinical Development, 2020 Dystroglycanopathy, a subgroup of muscular dystrophies, is characterized by hypoglycosylation of α-dystroglycan (α-DG), which reduces its laminin-binding activity to extracellular matrix proteins, causing progressive loss of muscle integrity and function.
Marcela P. Cataldi +4 more
doaj +1 more source
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]
, 2003 Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C. +15 more
core +1 more source
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]
, 2016 Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene +7 more
core +2 more sources
The muscular dystrophies [PDF]
Postgraduate Medical Journal, 1992 In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal ...
openaire +3 more sources
Orphanet Journal of Rare Diseases, 2017 Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
Ingrid E. C. Verhaart +7 more
doaj +1 more source
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
core +2 more sources
Molecular Therapy: Nucleic Acids, 2017 We investigated a series of Tween 85 modified low molecular weight polyethylenimine (LPEI, 0.8k/1.2k/2.0k)-copolymers (Zs) through simple formulation and covalent conjugation with phosphorodiamidate morpholino oligomer (PMO) for their potential to ...
Mingxing Wang +6 more
doaj +1 more source