Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
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
Confounding clinical presentation and different disease progression in CMT4B1
Guimaraes-Costa R, Villar-Quiles RN, Latour P, et al.
Neuromuscular disorders : NMD, 2020
Oedematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis
Duchesne M, Leonard-Louis S, Landon-Cardinal O, et al.
Brain pathology (Zurich, Switzerland), 2020
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations
Safka Brozkova D, Stojkovic T, Haberlova J, et al.
European journal of neurology, 2020
Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis
Dieudonne Y, Allenbach Y, Benveniste O, et al.
Neurology, 2019
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
Infliximab as effective treatment for aseptic neutrophilic myositis
Guillaume-Jugnot P, Guegan S, Leonard-Louis S, et al.
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
A multicenter retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Pareyson D, Stojkovic T, Reilly MM, et al.
Annals of neurology, 2019, p 55
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
Peretti A, Perie M, Vincent D, et al.
European journal of human genetics : EJHG, 2019
Expanding the spectrum of HIV-associated myopathy
Landon-Cardinal O, Gallay L, Dubourg O, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Palmio J, Leonard-Louis S, Sacconi S, et al.
Journal of neurology, 2019, 266, 3, p 680
Immune checkpoint inhibitor-related myositis and myocarditis in patients with cancer
Touat M, Touat M, Maisonobe T, et al.
Neurology, 2018, 91, 10, e985
Immune Checkpoint Inhibitor-Associated Myositis.
Anquetil C, Salem JE, Lebrun-Vignes B, et al.
Circulation, 2018, p. 743
The role of electrodiagnosis with long exercise test in McArdle disease
Semplicini C, Hézode-Arzel M, Laforêt P, et al.
Muscle & Nerve, 2018
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
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1
Wahbi K, Porcher R, Laforêt P, et al.
JAMA Neurology, 2018, 75, 5, p 573
Rare myopathy associated to MGUS, causing heart failure and responding to chemotherapy
Belhomme N, Maamar A, Le Gallou T, et al.
Annals of hematology, 2017, 96, 4, p 695
High intra-familiar clinical variability in MORC2 mutated CMT2 patients
Semplicini C, Ollagnon-Roman E, Leonard-Louis S, et al.
Brain : a journal of neurology, 2017, 140, 4
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients
Guimaraes-Costa R, Iancu Ferfoglia R, Leonard-Louis S, et al.
European journal of neurology, 2017, 24, 3, p 530
HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients
Papadopoulos C, Laforêt P, Nectoux J, et al.
Muscle & Nerve, 2017, 56, 6, p 1096
