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Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1980 - 1994
Journal Article
Journal Article
Journal Article
European Radiology, ISSN 0938-7994, 12/2018, Volume 28, Issue 12, pp. 5293 - 5303
Inherited myopathies are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early... 
Medicine & Public Health | Diagnostic Radiology | Muscular diseases | Whole body imaging | Myopathies, structural, congenital | Spinal curvatures | Internal Medicine | Muscular dystrophies | Interventional Radiology | Imaging / Radiology | Ultrasound | Neuroradiology | CENTRONUCLEAR MYOPATHY | INVOLVEMENT | Myopathies | congenital | CONGENITAL MYOPATHIES | LAMINOPATHIES | SELENOPROTEIN-N GENE | structural | DYSTROPHY | DISEASE | BODY MUSCLE MRI | MUTATIONS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | COMMON-CAUSE | Humans | Middle Aged | Child, Preschool | Magnetic Resonance Imaging - methods | Male | Young Adult | Scoliosis - physiopathology | Muscle Rigidity - etiology | Adult | Female | Muscular Dystrophies - diagnosis | Retrospective Studies | Whole Body Imaging - methods | Child | Severity of Illness Index | Diagnosis, Differential | Mallory Bodies - pathology | Muscle Rigidity - diagnosis | Algorithms | Muscle, Skeletal - physiopathology | Adolescent | Aged | Muscle Rigidity - physiopathology | Muscle, Skeletal - pathology | Muscular Dystrophies - physiopathology | Scoliosis - diagnosis | Nuclear magnetic resonance--NMR | Medical imaging | Spine | Muscles | Ryanodine receptors | Rigidity | Patients | Genetic screening | Atrophy | Magnetic resonance imaging | Collagen | Resonance | Diagnostic systems | Diagnosis | Mutation | Myopathy
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2015, Volume 10, Issue Suppl 2, p. O24
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 04/2019, Volume 29, pp. 30 - 43
There is a great clinical and genetic heterogeneity in congenital myopathies. Myo-MRI with pattern recognition has become a first-line complementary tool in... 
DISEASE | PATTERNS | PEDIATRICS | BODY MUSCLE MRI | MUTATIONS | COMPUTED-TOMOGRAPHY | CLINICAL NEUROLOGY | Development and progression | Genetic disorders | Algorithms | Medical imaging equipment
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article