Results 1 to 10 of about 9,962,231 (339)

Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies [PDF]

open access: yesJournal of Cachexia, Sarcopenia and Muscle, 2018
Background Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype.
Pietro Spitali   +2 more
exaly   +10 more sources

Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

open access: yesJournal of Methods and Measurement in the Social Sciences, 2010
Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric.
Melinda F. Davis   +3 more
doaj   +3 more sources

Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

open access: yesJournal of Methods and Measurement in the Social Sciences, 2011
Reports an error in Davis et al. (2010).  The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum Stambler ...
Melinda F. Davis   +3 more
doaj   +4 more sources

Breast Reconstruction in Becker Nevus Syndrome [PDF]

open access: yesPlastic and Reconstructive Surgery, Global Open
Summary:. Becker nevus syndrome is a rare cutaneous disorder characterized by the presence of a hyperpigmented patch of skin typically occurring on the upper trunk, often associated with hypertrichosis, and sometimes associated with musculoskeletal ...
Alexis K. Schlosser, MD   +2 more
doaj   +2 more sources

Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies

open access: yesBiomolecules & Biomedicine, 2015
Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies.
Elisabeth Le Rumeur
doaj   +4 more sources

Skeletal Muscle Membrane Permeability Markers Derived From <sup>31</sup>P-MRS May Reflect Disease Activity in Becker Muscular Dystrophy. [PDF]

open access: yesNMR Biomed
ABSTRACTReplacement of muscle tissue by fat in patients with Becker muscular dystrophy (BMD), as measured by quantitative muscle MRI, has been shown to reflect disease progression, but this process is considered irreversible. To monitor treatment effects in healthy‐appearing muscles, biomarkers reflecting disease activity are needed.
Schrama EJ   +5 more
europepmc   +5 more sources

The mechanism underlying transient weakness in myotonia congenita

open access: yeseLife, 2021
In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings from
Jessica H Myers   +9 more
doaj   +1 more source

Cellular Transplantation Alters the Disease Progression in Becker’s Muscular Dystrophy [PDF]

open access: yesCase Reports in Transplantation, 2013
Becker’s Muscular Dystrophy (BMD) is a dystrophinopathy manifested as progressive muscle degeneration. Autologous Bone Marrow Mononuclear Cells (BMMNCs) have shown some myogenic potential. The paracrine effects of the BMMNCs reduce the inflammation and are thought to reduce muscle degeneration. We treated a 39 year old dental surgeon suffering from BMD.
Alok Sharma   +5 more
openaire   +4 more sources

Becker congenital myotonia in black African with molecular findings

open access: yesEgyptian Journal of Medical Human Genetics, 2022
Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin   +6 more
doaj   +1 more source

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