[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 …

[HTML][HTML] Advances in quantitative imaging of genetic and acquired myopathies: clinical applications and perspectives

M Paoletti, A Pichiecchio, S Cotti Piccinelli… - Frontiers in …, 2019 - frontiersin.org
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 …

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 …

[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 …

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

A Barp, P Laforet, L Bello, G Tasca, J Vissing… - Journal of …, 2020 - Springer
Background Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a
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 …

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 …

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 …

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 …

Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments

GP Comi, EH Niks, CM Cinnante, HE Kan… - Muscle & …, 2022 - Wiley Online Library
Abstract Introduction/Aims Becker muscular dystrophy (BMD) is characterized by variable
disease severity and progression, prompting the identification of biomarkers for clinical trials …