Showing results (11-20 of 154) with videos related to

Sort By:
Pageof 16
Muscle & Nerve|February 23, 2017
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvementJean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, et al.
British Journal of Sports Medicine|October 26, 2012
Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: is sporting disqualification really necessary?Pascale Richard, Isabelle Denjoy, Véronique Fressart, et al.
Congenital Heart Disease|August 14, 2012
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutationGuillaume Coutance, Fabien Labombarda, Emmanuelle Cauderlier, et al.
Journal of Molecular and Cellular Cardiology|June 24, 2003
Identification of the genotypes causing hypertrophic cardiomyopathy in northern SwedenStellan Mörner, Pascale Richard, Elsadig Kazzam, et al.
Pacing and Clinical Electrophysiology : PACE|March 11, 2009
A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathyAlexandre Duparc, Pascal Cintas, Elisabeth Somody, et al.
JACC. Case Reports|July 28, 2021
Saw-Tooth Cardiomyopathy: Clinical Presentation and Genetic AnalysisJulie Proukhnitzky, Jérôme Garot, Céline Bordet, et al.
Bulletin De L'Academie Nationale De Medecine|August 13, 2015
[Congenital myasthenic syndromes; French experience]Bruno Eymard, Daniel Hantaï, Emmanuel Fournier, et al.
Novartis Foundation Symposium|March 19, 2005
Genetics of laminopathiesRabah Ben Yaou, Antoine Muchir, Takuro Arimura, et al.
Neuromuscular Disorders : NMD|May 3, 2011
Telethonin-deficiency initially presenting as a congenital muscular dystrophyAna Ferreiro, Monica Mezmezian, Montse Olivé, et al.
Neurology|December 25, 2016
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophyPascale Richard, Capucine Trollet, Tanya Stojkovic, et al.
Pageof 16