Results 21 to 30 of about 306,770 (339)
Molecular Therapy: Nucleic Acids, 2016 A series of poly(esteramine)s (PEAs) constructed from low molecular weight polyethyleneimine (LPEI) and Pluronic were evaluated for the delivery of antisense oligonuclotides (AOs), 2′-O-methyl phosphorothioate RNA (2′-OMePS) and phosphorodiamidate ...
Mingxing Wang +5 more
doaj +1 more source
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
core +7 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
Scientific Reports, 2021 We investigated the clinical and genetic features of patients with severe phenotype of granular corneal dystrophy type 2 (GCD2) associated with compound heterozygosity in the transforming growth factor-β-induced (TGFBI) gene.
Ikhyun Jun +5 more
doaj +1 more source
The quality of life in boys with Duchenne muscular dystrophy [PDF]
, 2016 We conducted a study to evaluate the quality of life in boys with Duchenne muscular dystrophy aged 8–18 years, compared with that in matched healthy controls. A total of 85 boys with Duchenne muscular dystrophy aged 8–18 years and 136 age, sex and living
Ashrafi, M.R. +10 more
core +1 more source
Corneal dystrophy in a cocker spaniel dog: a case report
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2017 A 1-year-old female Cocker Spaniel dog was examined at the ophthalmology service of the Veterinary Teaching Hospital - University of Messina (Italy) for evaluation of symmetrical white spots in both corneas and “red eyes”.
Monica Ragusa +4 more
doaj +1 more source
Detyrosinated microtubule arrays drive myofibrillar malformations in mdx muscle fibers
Frontiers in Cell and Developmental Biology, 2023 Altered myofibrillar structure is a consequence of dystrophic pathology that impairs skeletal muscle contractile function and increases susceptibility to contraction injury.
Anicca D. Harriot +13 more
doaj +1 more source
Stem Cells Translational Medicine, 2021 Muscular dystrophies are genetically determined progressive diseases with no cause‐related treatment and limited supportive treatment. Although stem cells cannot resolve the underlying genetic conditions, their wide‐ranging therapeutic properties may ...
Beata Świątkowska‐Flis +3 more
doaj +1 more source
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
core +1 more source
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
Biomedicines, 2023 Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey +8 more
doaj +1 more source