247th ENMC International Workshop: Muscle magnetic resonance imaging-Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts …

J Warman-Chardon, J Diaz-Manera, G Tasca… - Neuromuscular …, 2020 - Elsevier
On September 2019, 19 participants from 9 countries attended the 247th European
Neuromuscular Center (ENMC) workshop in Hoofddorp, The Netherlands, to discuss the …

MYO-MRI diagnostic protocols in genetic myopathies

JW Chardon, J Díaz-Manera, G Tasca… - Neuromuscular …, 2019 - Elsevier
Whole-body magnetic resonance imaging has emerged as a useful imaging tool in
diagnosing and characterizing the progression of myopathies and muscular dystrophies …

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review

DG Leung - Journal of neurology, 2017 - Springer
A growing body of the literature supports the use of magnetic resonance imaging as a
potential biomarker for disease severity in the hereditary myopathies. We performed a …

[引用][C] Applications of MRI in muscle diseases

PG Carlier, E Mercuri, V Straub - Neuromuscular Disorders, 2012 - nmd-journal.com
In recent years magnetic resonance imaging (MRI) and spectroscopy (MRS) have increased
in prominence in the neuromuscular field owing both to their utility in the diagnostic workup …

Advanced MRI patterns of muscle disease in inherited and acquired myopathies: what the radiologist should know

AP Caetano, P Alves - Seminars in Musculoskeletal Radiology, 2019 - thieme-connect.com
Myopathies represent a heterogeneous group of skeletal muscle disorders characterized by
morphological and functional changes in the muscle, such as replacement of muscle tissue …

165th ENMC international workshop: distal myopathies 6–8th February 2009 Naarden, The Netherlands

B Udd - Neuromuscular Disorders, 2009 - Elsevier
The ENMC consortium on distal myopathies held its 3rd workshop in Naarden, The
Netherlands, February 6–8th, 2009. The workshop was attended by 23 active participants …

TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25–26 February 2011, Rome, Italy

V Straub, PG Carlier, E Mercuri - Neuromuscular Disorders, 2012 - Elsevier
The TREAT-NMD workshop on pattern recognition by magnetic resonance imaging (MRI) of
skeletal muscle is one in a series of workshops that have been organised by TREAT-NMD to …

[HTML][HTML] Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

G Astrea, A Petrucci, D Cassandrini, M Savarese… - BMC Medical …, 2016 - Springer
Background Myosin heavy chain 7 related myopathies are rare disorders characterized by a
wide phenotypic spectrum and heterogeneous pathological features. In the present study …

[HTML][HTML] Role of radiologic imaging in genetic and acquired neuromuscular disorders

P Ortolan, R Zanato, A Coran, V Beltrame… - European journal of …, 2015 - ncbi.nlm.nih.gov
Great technologic and clinical progress have been made in the last two decades in
identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy …

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 …