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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
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
Comparative Analysis of Thymic and Blood Treg in Myasthenia Gravis: Thymic Epithelial Cells Contribute to Thymic Immunoregulatory Defects
Truffault F, Nazzal D, Verdier J, et al.
Frontiers in immunology, 2020, 11, p 782
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Masingue M, Arzel M, Sternberg D, et al.
Muscle & Nerve, 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
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
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio M, Dogan C, Daidj F, et al.
Orphanet journal of rare diseases, 2019, 14, n1, p 122
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
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
De Ridder W, Nelson I, Asselbergh B, et al.
Neurology. Genetics, 2019, 5, 2
Life-threatening lactic acidosis occurring in adults with mitochondrial disorders
Brisset M, Behin A, Pottier C, et al.
Revue neurologique, 2019
Syndromes myasthéniques congénitaux: Le repositionnement ne simplifie pas de facto l’accès : Utilisation clinique des traitements innovants, repositionnés ou hors AMM : le vécu du terrain (4)
Eymard B
médecine/sciences, 2019, 35, HS1, p 28
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
Consensus-based care recommendations for adults with myotonic dystrophy type 1
Ashizawa T, Gagnon C, Groh WJ, et al.
Neurology. Clinical practice, 2018, 8, 6, p 507
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
The role of electrodiagnosis with long exercise test in McArdle disease
Semplicini C, Hézode-Arzel M, Laforêt P, et al.
Muscle & Nerve, 2018
Marathons and myasthenia gravis: a case report.
Birnbaum S, Birnbaum S, Sharshar T, et al.
BMC neurology, 2018, 18, 1
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy
Sochala M, Porcher R, Stojkovic T, et al.
Circulation, 2018, 138, 11, p 1169
