Results 91 to 100 of about 52,464 (357)
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Arquivos de Neuro-Psiquiatria, 2014 Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta +10 more
doaj +1 more source
Facioscapulohumeral Muscular Dystrophy
Neurotherapeutics, 2004 Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions.
openaire +8 more sources
Advanced Healthcare Materials, EarlyView.Segmented PCL‐bisurea (BU) polymers and BU‐peptide conjugate additives assemble into fibrous superstructures at the nanoscale through a mix‐and‐matching strategy. Different bioactivities are incorporated through variation of peptide sequences. The resulting materials are screened for their effect on stem cell adhesion and pluripotency.
Johnick F. van Sprang +6 more
wiley +1 more source
Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype
Muscle &Nerve, Volume 67, Issue 2, Page 130-137, February 2023., 2023 Abstract Introduction/Aims Although the extent of muscle weakness and organ complications has not been well studied in patients with late‐onset myotonic dystrophy type 1 (DM1), adult‐onset DM1 is associated with severe muscle involvement and possible life‐threatening cardiac and respiratory complications.
Isis B.T. Joosten +8 more
wiley +1 more source
Disease Models & Mechanisms, 2018 Muscle strength is a key clinical parameter used to monitor the progression of human muscular dystrophies, including Duchenne and Becker muscular dystrophies. Although Caenorhabditis elegans is an established genetic model for studying the mechanisms and
Jennifer E. Hewitt +7 more
doaj +1 more source
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
core +2 more sources
Advanced Healthcare Materials, EarlyView.The scaffold‐free Anchored Cell Sheet Engineering platform is used to create three‐dimensional (3D) in vitro models of skeletal muscle tissue that replicate key features of Duchenne and Myotonic dystrophies. These personalized tissue models, validated by histological, immunostaining, and proteomics analyses, accurately mimic disease phenotypes and ...
Alireza Shahin‐Shamsabadi +1 more
wiley +1 more source
Muscle &Nerve, Volume 67, Issue 2, Page 124-129, February 2023., 2023 Abstract Introduction/Aims An intravenous (IV) formulation of edaravone has been shown to slow the rate of physical functional decline in amyotrophic lateral sclerosis (ALS). An oral suspension formulation of edaravone was recently approved by the United States Food and Drug Administration for use in patients with ALS.
Angela Genge +16 more
wiley +1 more source
Multiparametric Deep Learning Tissue Signatures for Muscular Dystrophy: Preliminary Results [PDF]
arXiv, 2019 A current clinical challenge is identifying limb girdle muscular dystrophy 2I(LGMD2I)tissue changes in the thighs, in particular, separating fat, fat-infiltrated muscle, and muscle tissue. Deep learning algorithms have the ability to learn different features by using the inherent tissue contrasts from multiparametric magnetic resonance imaging (mpMRI).
arxiv