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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
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Journal Article
Journal Article
European Respiratory Journal, ISSN 0903-1936, 09/2016, Volume 48, Issue suppl 60, p. PA1220
Journal Article
Cardiology in the Young, ISSN 1047-9511, 08/2017, Volume 27, Issue 6, pp. 1076 - 1082
Journal Article
Nature Communications, ISSN 2041-1723, 05/2016, Volume 7, Issue 1, p. 11534
Journal Article
by Wahbi, Karim and Ben Yaou, Rabah and Gandjbakhch, Estelle and Anselme, Frédéric and Gossios, Thomas and Lakdawala, Neal K and Stalens, Caroline and Sacher, Frédéric and Babuty, Dominique and Trochu, Jean-Noel and Moubarak, Ghassan and Savvatis, Kostantinos and Porcher, Raphaël and Laforêt, Pascal and Fayssoil, Abdallah and Marijon, Eloi and Stojkovic, Tanya and Béhin, Anthony and Leonard-Louis, Sarah and Sole, Guilhem and Labombarda, Fabien and Richard, Pascale and Metay, Corinne and Quijano-Roy, Susana and Dabaj, Ivana and Klug, Didier and Vantyghem, Marie-Christine and Chevalier, Philippe and Ambrosi, Pierre and Salort, Emmanuelle and Sadoul, Nicolas and Waintraub, Xavier and Chikhaoui, Khadija and Mabo, Philippe and Combes, Nicolas and Maury, Philippe and Sellal, Jean-Marc and Tedrow, Usha B and Kalman, Jonathan M and Vohra, Jitendra and Androulakis, Alexander F.A and Zeppenfeld, Katja and Thompson, Tina and Barnerias, Christine and Bécane, Henri-Marc and Bieth, Eric and Boccara, Franck and Bonnet, Damien and Bouhour, Françoise and Boulé, Stéphane and Brehin, Anne-Claire and Chapon, Françoise and Cintas, Pascal and Cuisset, Jean-Marie and Davy, Jean-Marc and De Sandre-Giovannoli, Annachiara and Demurger, Florence and Desguerre, Isabelle and Dieterich, Klaus and Durigneux, Julien and Echaniz-Laguna, Andoni and Eschalier, Romain and Ferreiro, Ana and Ferrer, Xavier and Francannet, Christine and Fradin, Mélanie and Gaborit, Bénédicte and Gay, Arnaud and Hagège, Albert and Isapof, Arnaud and Jeru, Isabelle and Juntas Morales, Raul and Lagrue, Emmanuelle and Lamblin, Nicolas and Lascols, Olivier and Laugel, Vincent and Lazarus, Arnaud and Leturcq, France and Levy, Nicolas and Magot, Armelle and Manel, Véronique and Martins, Raphaël and Mayer, Michèle and Mercier, Sandra and Meune, Christophe and Michaud, Maud and Minot-Myhié, Marie-Christine and Muchir, Antoine and Nadaj-Pakleza, Aleksandra and Péréon, Yann and Petiot, Philippe and Petit, Florence and Praline, Julien and Rollin, Anne and Sabouraud, Pascal and Sarret, Catherine and Schaeffer, Stéphane and Taithe, Frederic and Tard, Céline and Tiffreau, Vincent and ...
Circulation, ISSN 0009-7322, 07/2019, Volume 140, Issue 4, pp. 293 - 302
BACKGROUND:An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select... 
ARRHYTHMIAS | implantable | CARDIAC & CARDIOVASCULAR SYSTEMS | death | PREVENTION | ventricular | SUBDISTRIBUTION | HAZARDS MODEL | sudden | LAMIN A/C GENE | PERIPHERAL VASCULAR DISEASE | tachycardia | MUTATIONS | defibrillators | Tachycardia | Models | Health risk assessment | Risk factors | Life Sciences | Human health and pathology | Genetics | Cardiology and cardiovascular system
Journal Article
Respirology Case Reports, ISSN 2051-3380, 09/2014, Volume 2, Issue 3, pp. 95 - 98
Respiratory muscle testing is often limited to noninvasive volitional tests such as vital capacity and maximal static pressures. We report the case of a... 
COL | diaphragm | respiratory function | vital capacity | 6‐related myopathy | llrich congenital muscular dystrophy | Ullrich congenital muscular dystrophy | Respiratory function | Vital capacity | Diaphragm | COL6-related myopathy | Case Reports
Journal Article