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Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 11, pp. 975 - 985
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 09/2017, Volume 18, Issue 1, pp. 105 - 7
Journal Article
Genes & Genomics, ISSN 1976-9571, 12/2018, Volume 40, Issue 12, pp. 1269 - 1277
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2012, Volume 46, Issue 5, pp. 332 - 334
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
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article