Muscular dystrophies

E Mercuri, F Muntoni - The Lancet, 2013 - thelancet.com
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar
clinical features and dystrophic changes on muscle biopsy. An improved understanding of …

Muscle MRI in inherited neuromuscular disorders: past, present, and future

E Mercuri, A Pichiecchio, J Allsop… - Journal of Magnetic …, 2007 - Wiley Online Library
Interest in muscle MRI has been largely stimulated in the last few years by the recognition of
an increasing number of genetic defects in the field of inherited neuromuscular disorders …

Predicting gait adaptations due to ankle plantarflexor muscle weakness and contracture using physics-based musculoskeletal simulations

CF Ong, T Geijtenbeek, JL Hicks… - PLoS computational …, 2019 - journals.plos.org
Deficits in the ankle plantarflexor muscles, such as weakness and contracture, occur
commonly in conditions such as cerebral palsy, stroke, muscular dystrophy, Charcot-Marie …

Local dystrophin restoration with antisense oligonucleotide PRO051

JC Van Deutekom, AA Janson, IB Ginjaar… - … England Journal of …, 2007 - Mass Medical Soc
Background Duchenne's muscular dystrophy is associated with severe, progressive muscle
weakness and typically leads to death between the ages of 20 and 35 years. By inducing …

Neuromuscular imaging in inherited muscle diseases

MP Wattjes, RA Kley, D Fischer - European radiology, 2010 - Springer
Driven by increasing numbers of newly identified genetic defects and new insights into the
field of inherited muscle diseases, neuromuscular imaging in general and magnetic …

Untangling the complexity of limb‐girdle muscular dystrophies

T Liewluck, M Milone - Muscle & nerve, 2018 - Wiley Online Library
The limb‐girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous,
autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with …

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

J Diaz-Manera, R Fernandez-Torron… - Journal of Neurology …, 2018 - jnnp.bmj.com
Background and objective Dysferlinopathies are a group of muscle disorders caused by
mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern …

[HTML][HTML] Muscle MRI in muscular dystrophies

J Díaz-Manera, J Llauger, E Gallardo, I Illa - Acta Myologica, 2015 - ncbi.nlm.nih.gov
Muscle MRI has become a very useful tool in the diagnosis and follow-up of patients with
muscle dystrophies. Muscle MRI provides us about many aspects of the structure and …

Magnetic resonance imaging pattern recognition in sporadic inclusion‐body myositis

G Tasca, M Monforte, C De Fino, RA Kley… - Muscle & …, 2015 - Wiley Online Library
Introduction: In sporadic inclusion‐body myositis (IBM), additional tools are needed to
confirm the diagnosis, particularly in clinically atypical or pathologically unproven patients …

Whole body muscle MRI protocol: pattern recognition in early onset NM disorders

S Quijano-Roy, D Avila-Smirnow, RY Carlier… - Neuromuscular …, 2012 - Elsevier
A paediatric and adult whole-body MRI (WB-MRI) protocol using a 1.5-T MRI system was
used to examine 117 individuals (106 patients, 11 asymptomatic relatives). Genetic …