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European Journal of Neurology|March 31, 2025
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult AgeMichela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, 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.
Muscle & Nerve|January 20, 2018
The role of electrodiagnosis with long exercise test in mcardle diseaseClaudio Semplicini, Marianne Hézode-Arzel, Pascal Laforêt, et al.
Muscle & Nerve|August 12, 2009
Permanent muscle weakness in McArdle diseaseAleksandra A Nadaj-Pakleza, Carlo M Vincitorio, Pascal Laforêt, et al.
Neuromuscular Disorders : NMD|August 19, 2003
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiencyClaire Wary, Pascal Laforêt, Bruno Eymard, et al.
Muscle & Nerve|January 17, 2020
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulationMarion Masingue, Marianne Arzel, Damien Sternberg, et al.
JAMA|March 29, 2012
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system diseaseKarim Wahbi, Christophe Meune, Raphaël Porcher, et al.
Annals of Neurology|June 21, 2006
Cold extends electromyography distinction between ion channel mutations causing myotoniaEmmanuel Fournier, Karine Viala, Hélène Gervais, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutationRabah Ben Yaou, Claire Navarro, Susana Quijano-Roy, et al.
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