Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases. [PDF]
Int J Mol SciAkyürek EE +4 more
europepmc +1 more source
Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy. [PDF]
Skelet MuscleLloyd EM +10 more
europepmc +1 more source
Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
Journal of Clinical Medicine, 2023 Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule development and maintenance, Ca2+ signalling, and the regulation of various molecules.
Jacques P. Tremblay, Camille Bouchard
exaly +4 more sources
Comparison of strength testing modalities in dysferlinopathy
Muscle and Nerve, 2022 AbstractIntroduction/AimsDysferlinopathy demonstrates heterogeneity in muscle weakness between patients, which can progress at different rates over time. Changing muscle strength due to disease progression or from an investigational product is associated with changing functional ability.
Marni Jacobs +2 more
exaly +8 more sources
Proteomic analysis of the skeletal muscles from dysferlinopathy patients
Journal of Clinical Neuroscience, 2020 Dysferlinopathy is an autosomal recessive disease caused by pathogenic variants in DYSF gene. We compared muscle protein extracts from dysferlinopathy patients and control subjects to identify new biomarkers of this myopathy.
Young-Chul Choi +2 more
exaly +3 more sources
Broadening the imaging phenotype of dysferlinopathy at different disease stages [PDF]
Muscle and Nerve, 2016 Introduction: MRI characterization of dysferlinopathy has been mostly limited to the lower limbs. We aimed to broaden the MRI description of dysferlinopathy and to correlate it with objective measures of motor dysfunction.
Jorge A Bevilacqua +2 more
exaly +2 more sources
Muscle atrophy, ubiquitin–proteasome, and autophagic pathways in dysferlinopathy
Muscle and Nerve, 2014 Introduction: Muscle fiber atrophy and the molecular pathways underlying this process have not been investigated in dysferlinopathy patients. Methods: In 22 muscles from dysferlinopathy patients we investigated fiber atrophy by morphometry and ubiquitin ...
Corrado Angelini, Marina Fanin
exaly +2 more sources
Toward an objective measure of functional disability in dysferlinopathy [PDF]
Muscle and Nerve, 2016 Artículo de publicación ISIIntroduction: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols.
Nicolas Levy +2 more
exaly +2 more sources
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy [PDF]
Neuromuscular Disorders, 2023 Myostatin is a myokine which acts upon skeletal muscle to inhibit growth and regeneration. Myostatin is endogenously antagonised by follistatin. This study assessed serum myostatin and follistatin concentrations as monitoring or prognostic biomarkers in ...
Volker Straub +2 more
exaly +4 more sources
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Dysferlinopathies: Clinical and genetic variability
Clinical Genetics, 2022Abstract Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle tissues and is localized in the sarcolemma, where it performs its main function of ...
Alisa, Ivanova +2 more
openaire +2 more sources