[HTML][HTML] Exon-skipping in Duchenne muscular dystrophy
S Takeda, PR Clemens… - Journal of neuromuscular …, 2021 - content.iospress.com
Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically
described in the 19 th century, the genetic foundation of DMD was not discovered until more …
described in the 19 th century, the genetic foundation of DMD was not discovered until more …
[HTML][HTML] Advances in quantitative imaging of genetic and acquired myopathies: clinical applications and perspectives
In the last years, magnetic resonance imaging (MRI) has become fundamental for the
diagnosis and monitoring of myopathies given its ability to show the severity and distribution …
diagnosis and monitoring of myopathies given its ability to show the severity and distribution …
Selection approach to identify the optimal biomarker using quantitative muscle MRI and functional assessments in Becker muscular dystrophy
NM van de Velde, MT Hooijmans… - Neurology, 2021 - AAN Enterprises
Objective To identify the best quantitative fat–water MRI biomarker for disease progression
of leg muscles in Becker muscular dystrophy (BMD) by applying a stepwise approach based …
of leg muscles in Becker muscular dystrophy (BMD) by applying a stepwise approach based …
[HTML][HTML] Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies
EP Hoffman - Acta Myologica, 2020 - ncbi.nlm.nih.gov
Becker muscular dystrophy is caused by mutations in the DMD gene that permit significant
residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene …
residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene …
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Background Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a
progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine …
progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine …
[HTML][HTML] Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study
GP Comi, EH Niks, K Vandenborne… - Frontiers in …, 2023 - frontiersin.org
Objective No treatments are approved for Becker muscular dystrophy (BMD). This study
investigated the efficacy and safety of givinostat, a histone deacetylase pan-inhibitor, in …
investigated the efficacy and safety of givinostat, a histone deacetylase pan-inhibitor, in …
MR imaging of inherited myopathies: a review and proposal of imaging algorithms
LU Aivazoglou, JB Guimarães, TM Link, MAF Costa… - European …, 2021 - Springer
Purpose of review The aims of this review are to discuss the imaging modalities used to
assess muscle changes in myopathies, to provide an overview of the inherited myopathies …
assess muscle changes in myopathies, to provide an overview of the inherited myopathies …
Quantitative muscle MRI protocol as possible biomarker in Becker muscular dystrophy
L Maggi, M Moscatelli, R Frangiamore, F Mazzi… - Clinical …, 2021 - Springer
Purpose Aim of this study is to compare Quantitative Magnetic Resonance Imaging (qMRI)
measures between Becker Muscular Dystrophy (BMD) and Healthy Subjects (HS) and to …
measures between Becker Muscular Dystrophy (BMD) and Healthy Subjects (HS) and to …
Duchenne Muscular Dystrophy: recent advances in protein biomarkers and the clinical application
C Al-Khalili Szigyarto - Expert Review of Proteomics, 2020 - Taylor & Francis
Introduction Early biomarker discovery studies have praised the value of their emerging
results, predicting an unprecedented impact on health care. Biomarkers are expected to …
results, predicting an unprecedented impact on health care. Biomarkers are expected to …
Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments
Abstract Introduction/Aims Becker muscular dystrophy (BMD) is characterized by variable
disease severity and progression, prompting the identification of biomarkers for clinical trials …
disease severity and progression, prompting the identification of biomarkers for clinical trials …