Results 61 to 70 of about 1,979 (203)
Case Reports in Genetics, 2016 Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014).
Abhisek Swaika +7 more
doaj +1 more source
Frontiers in Neurology, 2021 Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang +5 more
doaj +1 more source
Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy [PDF]
, 2010 Background The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported.
Alberto Lerario +6 more
core +2 more sources
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy
Case Reports in Medicine, 2017 Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified.
Svetlana F. Khaiboullina +7 more
doaj +1 more source
Functions of Vertebrate Ferlins
Cells, 2020 Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj +1 more source
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis. [PDF]
Neurol GenetBACKGROUND AND OBJECTIVES: Limb-girdle muscular dystrophy R2 (LGMDR2) is characterized by progressive muscle weakness usually leading to severe disability. The rate of progression and disease severity is variable among patients, although factors influencing this variability are not completely understood.
Bolano-Diaz CF +32 more
europepmc +2 more sources
Biomarkers in Inflammatory Myopathies – An Expanded Definition [PDF]
, 2019 Biomarkers as parameters of pathophysiological conditions can be of outmost relevance for inflammatory myopathies. They are particularly warranted to inform about diagnostic, prognostic, and therapeutic questions.
Benveniste, Olivier +2 more
core +3 more sources
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
core +3 more sources
Dysferlinopathy: A Case Report and Literature Update
İstanbul Medical Journal, 2016 Dysferlinopathy is a rare autosomal recessive myopathy, resulting in the lack or absence of dysferlin production caused by mutations in the encoding gene.
Orkide Kutlu +7 more
doaj +1 more source
Statistical Test of Expression Pattern (STEPath): a new strategy to integrate gene expression data with genomic information in individual and meta-analysis studies [PDF]
, 2011 Background In the last decades, microarray technology has spread, leading to a dramatic increase of publicly available datasets. The first statistical tools developed were focused on the identification of significant differentially expressed genes. Later,
Paolo Martini +5 more
core +1 more source