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Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S113 - S113
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S164 - S164
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 07/2018, Volume 25, Issue 5, pp. 322 - 326
Arthrogryposis is a descriptive term defining a sign. It describes a set of joint contractures, sometimes identifiable in utero, present from birth and... 
Amyoplasia congenita | Genetic | Neurological etiologies | Myopathies | Arthrogryposis | Protocol | Multidisciplinary | PERISYLVIAN POLYMICROGYRIA | CLASSIFICATION | MULTIPLE CONGENITAL CONTRACTURES | DIAGNOSTIC-APPROACH | GENETICS | PEDIATRICS | SPECTRUM | Medicine, Experimental | Medical research | Children | Health aspects | Analysis | Investigations | Life Sciences
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2019, Volume 29, pp. S136 - S136
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 07/2018, Volume 20, Issue 4, pp. 533 - 549
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with >100 identified genes, including the giant and complex titin ( ) and... 
EXOME | VARIANTS | DNA | PERFORMANCE | GUIDELINES | CONSENSUS | MUTATIONS | PATHOLOGY | DELETIONS | GENOME | SEVERITY | Life Sciences
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 19, pp. S51 - S51
Introduction Acute isolated acquired nontraumatic VIth nerve palsy is not uncommon in children. Few studies have been conducted in this population. Objective... 
Pediatrics | Neurology
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2018, Volume 28, pp. S141 - S142
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2018, Volume 28, pp. S141 - S142
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2016, Volume 26, pp. S113 - S113
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2016, Volume 26, pp. S164 - S164
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e94 - e95
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 09/2016, Volume 23, Issue 9, pp. 878 - 886
Hormis l’amyotrophie spinale infantile (SMA) et la dystrophie myotonique de type 1 (DM1), les maladies neuromusculaires congénitales d’expression précoce, peu... 
Journal Article
Archives de Pediatrie, ISSN 0929-693X, 09/2016, Volume 23, Issue 9, pp. 878 - 886
Apart from spinal muscular atrophy (SMA) and myotonic dystrophy type 1 (DM1), congenital neuromuscular diseases with early neonatal symptoms mean diagnostic... 
Journal Article
Archives de pediatrie, ISSN 0929-693X, 09/2016, Volume 23, Issue 9, pp. 878 - 886
Hormis l'amyotrophie spinale infantile (SMA) et la dystrophie myotonique de type 1 (DM1), les maladies neuromusculaires congenitales d'expression precoce, peu... 
Infants (Newborn) | Genetic disorders | Life Sciences
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
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