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Broadening the imaging phenotype of dysferlinopathy at different diseasestages
(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. ...
Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies
(2016)
Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients ...
Broadening the imaging phenotype of dysferlinopathy at different disease stages
(John Wiley and Sons Inc., 2016)
© 2016 Wiley Periodicals, Inc. 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 ...
Dysferlin function in skeletal muscle: possible pathological mechanisms and therapeutical targets in dysferlinopathies
(2016)
Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients ...
Broadening the imaging phenotype of dysferlinopathy at different disease stages
(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. ...
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
(2019)
Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood. Methods: Fibroadipose infiltration of 61 muscles was scored based ...
Toward an objective measure of functional disability in dysferlinopathy
(WILEY-BLACKWELL, 2016)
Introduction: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients ...
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
(John Wiley and Sons Inc., 2019)
© 2018 Wiley Periodicals, Inc.Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood. Methods: Fibroadipose infiltration ...
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes
(2016)
Background: Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several alterations in skeletal muscles, including, inflammation, ...