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Orphanet Journal of Rare Diseases|August 26, 2017
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe diseaseBarry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, et al.
Plos One|April 28, 2016
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2DAbdallah Fayssoil, Adam Ogna, Cendrine Chaffaut, et al.
Brain Communications|May 25, 2022
Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1Alexandre Morin, Aurelie Funkiewiez, Alexandre Routier, et al.
Journal of Neuromuscular Diseases|September 14, 2020
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 MutationsJosé Vázquez, Claire Lefeuvre, Rosa Elena Escobar, et al.
Plos One|April 25, 2019
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disordersAbdallah Fayssoil, Lee S Nguyen, Adam Ogna, et al.
European Radiology|May 27, 2018
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidityMickael Tordjman, Ivana Dabaj, Pascal Laforet, et al.
Muscle & Nerve|March 4, 2017
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencingMathieu Cerino, Svetlana Gorokhova, Pascal Laforet, et al.
Human Mutation|July 26, 2006
Variable pathogenic potentials of mutations located in the desmin alpha-helical domainBertrand Goudeau, Fernando Rodrigues-Lima, Dirk Fischer, et al.
Plos One|January 6, 2018
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosisAbdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, et al.
Muscle & Nerve|October 7, 2021
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophyAbdallah Fayssoil, Lee S Nguyen, Tanya Stojkovic, et al.
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