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Auteur Leonard-Louis S |
Documents disponibles écrits par cet auteur



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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
Revue : European journal of neurology Titre : Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies Type de document : Article Auteurs : Guimaraes-Costa R ; Fernandez-Eulate G ; Wahbi K ; Leturcq F ; Malfatti E ; Behin A ; Leonard-Louis S ; Desguerre I ; Barnerias C ; Nougues MC ; Isapof A ; Estournet-Mathiaud B ; Quijano-Roy S ; Fayssoil A ; Orlikowski D ; Fauroux B ; Richard I ; Semplicini C ; Romero NB ; Querin G ; Eymard B ; Laforêt P ; Stojkovic T Editeur : England Année de publication : 14/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33051934 / DOI : 10.1111/ene.14592
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33051934 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Confounding clinical presentation and different disease progression in CMT4B1
Guimaraes-Costa R, Villar-Quiles RN, Latour P, et al.
Neuromuscular disorders : NMD, 2020
Revue : Neuromuscular disorders : NMD Titre : Confounding clinical presentation and different disease progression in CMT4B1 Type de document : Article Auteurs : Guimaraes-Costa R ; Villar-Quiles RN ; Latour P ; Solé G ; Husson I ; Lacour A ; Leonard-Louis S ; Stojkovic T Editeur : England Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32586600 / DOI : 10.1016/j.nmd.2020.05.003
N° Profil MNM : 2020062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32586600 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Oedematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis
Duchesne M, Leonard-Louis S, Landon-Cardinal O, et al.
Brain pathology (Zurich, Switzerland), 2020
Revue : Brain pathology (Zurich, Switzerland) Titre : Oedematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis Type de document : Article Auteurs : Duchesne M, Auteur ; Leonard-Louis S ; Landon-Cardinal O ; Anquetil C ; Mariampilla K ; Monzani Q ; Benveniste O ; Allenbach Y Editeur : Switzerland Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32323412 / DOI : 10.1111/bpa.12844
N° Profil MNM : 2020042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32323412 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations
Safka Brozkova D, Stojkovic T, Haberlova J, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations Type de document : Article Auteurs : Safka Brozkova D ; Stojkovic T ; Haberlova J ; Mazanec R ; Windhager R ; Fernandes Rosenegger P ; Hacker S ; Züchner S ; Kochanski A ; Leonard-Louis S ; Francou B ; Latour P ; Senderek J ; Seeman P ; Auer-Grumbach M Editeur : England Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32757322 / DOI : 10.1111/ene.14463
N° Profil MNM : 2020081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32757322 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis
Dieudonne Y, Allenbach Y, Benveniste O, et al.
Neurology, 2019
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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
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Infliximab as effective treatment for aseptic neutrophilic myositis
Guillaume-Jugnot P, Guegan S, Leonard-Louis S, et al.
Neurology, 2019
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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
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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
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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
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Expanding the spectrum of HIV-associated myopathy
Landon-Cardinal O, Gallay L, Dubourg O, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019
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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
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Immune checkpoint inhibitor-related myositis and myocarditis in patients with cancer
Touat M, Touat M, Maisonobe T, et al.
Neurology, 2018, 91, 10, e985
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Immune Checkpoint Inhibitor-Associated Myositis.
Anquetil C, Salem JE, Lebrun-Vignes B, et al.
Circulation, 2018, p. 743
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The role of electrodiagnosis with long exercise test in McArdle disease
Semplicini C, Hézode-Arzel M, Laforêt P, et al.
Muscle & Nerve, 2018
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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
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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
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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
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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
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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
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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
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