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Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study
Querin G, Lenglet T, Debs R, et al.
Journal of neurology, 2021
Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
Reyngoudt H, Marty B, Boisserie JM, et al.
European radiology, 2020
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
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy
Gidaro T, Reyngoudt H, Le Louër J, et al.
Journal of neurology, 2020, 267, 1, p 228
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Masingue M, Arzel M, Sternberg D, et al.
Muscle & Nerve, 2020
Relationship between markers of disease activity and progression in skeletal muscle of GNE myopathy patients using quantitative nuclear magnetic resonance imaging and (31)P nuclear magnetic resonance spectroscopy
Reyngoudt H, Marty B, Caldas de Almeida Araujo E, et al.
Quantitative imaging in medicine and surgery, 2020, 10, 7, p 1450
Développement de nouveaux marqueurs chez les patients SMA type III et IV
Querin G, Lenglet T, Debs R, et al.
Revue neurologique, 2020
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
A high prevalence of arterial hypertension in patients with mitochondrial diseases
Chong-Nguyen C, Stalens C, Goursot Y, et al.
Journal of inherited metabolic disease, 2019
Risk factors associated with myasthenia gravis in thymoma patients: The potential role of thymic germinal centers
Lefeuvre CM, Payet CA, Fayet OM, et al.
Journal of autoimmunity, 2019
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Voermans NC, van der Bilt RC, IJspeert J, et al.
Journal of neurology, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
Congenital myopathies are mainly associated with a mild cardiac phenotype
Petri H, Wahbi K, Witting N, et al.
Journal of neurology, 2019, 266, 6, p 1367
FSHD1 and FSHD2 form a disease continuum
Sacconi S, Briand-Suleau A, Gros M, et al.
Neurology, 2019, 92, 19
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
Expanding the spectrum of HIV-associated myopathy
Landon-Cardinal O, Gallay L, Dubourg O, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
Lochmuller H, Behin A, Caraco Y, et al.
Neurology, 2019, 92, n18, e2109-e2117
Life-threatening lactic acidosis occurring in adults with mitochondrial disorders
Brisset M, Behin A, Pottier C, et al.
Revue neurologique, 2019
Causes and Consequences of miR-150-5p Dysregulation in Myasthenia Gravis
Cron MA, Maillard S, Truffault F, et al.
Frontiers in immunology, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Echaniz-Laguna A, Nadjar Y, Behin A, et al.
Journal of inherited metabolic disease, 2019
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
Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging
Marty B, Gilles R, Toussaint M, et al.
European heart journal cardiovascular Imaging, 2018
