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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Guimaraes-Costa R, Fernandez-Eulate G, Wahbi K, et al.
European journal of neurology, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1
Boentert M, Cao M, Mass D, et al.
Respiration; international review of thoracic diseases, 2020, 99, 4, p 360
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy. Reference article: Sleep-related breathing disorders in facioscapulohumeral dystrophy
Santos DR, Boussaïd G, Stojkovic T, et al.
Sleep and Breathing, 2019
Peak Cough Flow Fails to Detect Upper Airway Collapse During Negative Pressure Titration for Cough-Assist
Lacombe M, Bore A, Amo Castrillo LD, et al.
Archives of physical medicine and rehabilitation, 2019
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders
Fayssoil A, Nguyen LS, Ogna A, et al.
PLoS ONE, 2019, 14, 4
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood
Fayssoil A, Chaffaut C, Ogna A, et al.
Journal of Neuromuscular Diseases, 2019, 6, 1, p 55
Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report
Fayssoil A, Fayssoil A, Stojkovic T, et al.
Medicine, 2019, 98, 4
Accuracy of B-natriuretic peptide for the diagnosis of decompensated heart failure in muscular dystrophies patients with chronic respiratory failure
Meng P, Nguyen LS, Jabbour F, et al.
Neurology International, 2018, 10, 4
Flow and airway pressure analysis for detecting ineffective effort during mechanical ventilation in neuromuscular patients
Ciorba C, Gonzalez-Bermejo J, Salva MQ, et al.
Chronic respiratory disease, 2018, 16
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
Semplicini C, Semplicini C, Letard P, et al.
Journal of inherited metabolic disease, 2018
Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)
Fayssoil A, Nguyen LS, Ogna A, et al.
The American journal of cardiology, 2018
Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study
Boussaïd G, Prigent H, Laforêt P, et al.
Thorax, 2018
Genotype and other determinants of respiratory function in myotonic dystrophy type 1
Boussaïd G, Wahbi K, Laforêt P, et al.
Neuromuscular disorders : NMD, 2018, 28, 3, p 222
Natural history of cardiac function in Duchenne and Becker muscular dystrophies on home mechanical ventilation
Fayssoil A, Ogna A, Chaffaut C, et al.
Medicine, 2018, 97, 27
Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats
Lofaso F, Prigent H, Annane D, et al.
Neuromuscular disorders : NMD, 2018, 28, 10, p 894
Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective
Boussaïd G, Lofaso F, Orlikowski D, et al.
Neuromuscular disorders : NMD, 2018, 28, 2, p 194
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis
Fayssoil A, Ben Yaou R, Ogna A, et al.
PLoS ONE, 2018, 13, 1
Bench evaluation of commercially available and newly developed interfaces for mouthpiece ventilation
Ogna A, Prigent H, Falaize L, et al.
The clinical respiratory journal, 2018, 12, 3, p 890
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders
Fayssoil A, Behin A, Ogna A, et al.
Journal of Neuromuscular Diseases, 2017
Short-term effect of volume recruitment-derecruitment manoeuvre on chest-wall motion in Duchenne muscular dystrophy
Meric H, Falaize L, Pradon D, et al.
Chronic respiratory disease, 2017, 14, 2, p 110
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation
Fayssoil A, Yaou RB, Ogna A, et al.
ESC heart failure, 2017, 4, 4, p 527
Outcomes of Hospitalised Muscular Dystrophy Patients
Boussaïd G, Prigent H, Caranhac G, et al.
Journal of Neuromuscular Diseases, 2017, 4, 2, p 165
