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Cells|January 21, 2023
Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with CardiomyopathiesNathalie Vadrot, Flavie Ader, Maryline Moulin, et al.
Journal of Molecular and Cellular Cardiology|June 6, 2003
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathyStephan Waldmüller, Sadayappan Sakthivel, Abdul Vahab Saadi, et al.
Open Medicine (Warsaw, Poland)|December 18, 2020
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathyIsabelle Marey, Véronique Fressart, Caroline Rambaud, et al.
Clinical Genetics|February 15, 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathyFlavie Ader, Guillaume Jedraszak, Alexandre Janin, et al.
Annals of Clinical and Translational Neurology|April 21, 2020
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiencyAurélien Perrin, Corinne Metay, Marcello Villanova, et al.
Neuromuscular Disorders : NMD|December 16, 2022
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromesTanya Stojkovic, Marion Masingue, Helène Turmel, et al.
Vox Sanguinis|December 28, 2023
Implementation of amotosalen plus ultraviolet A-mediated pathogen reduction for all platelet concentrates in France: Impact on the risk of transfusion-transmitted infectionsPascale Richard, Elodie Pouchol, Imad Sandid, et al.
European Heart Journal|May 12, 2009
A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathyFelix W Friedrich, Pedro Bausero, Yuli Sun, et al.
Muscle & Nerve|December 17, 2015
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathyDavid Gómez-Andrés, Ivana Dabaj, Dominique Mompoint, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutationsMohamed Jarraya, Susana Quijano-Roy, Nicole Monnier, et al.
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