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Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2016, Volume 31, Issue 5, pp. 940 - 948
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 95 - 104
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 | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 460 - 464
Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad... 
Lowe syndrome | OCRL | growth deficiency | oculocerebrorenal syndrome | severe osteopathy | 5-PHOSPHATASE | DISEASE | GROWTH | GENETICS & HEREDITY | VARIANT | INSIGHTS | Glaucoma | Cataracts | Phosphatidylinositol | Genotype & phenotype | Bone growth | Renal function | Kidneys | Central nervous system | Osteopathy | Seizures
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1980 - 1994
Journal Article