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Page 1
Systemic sclerosis associated myopathy.
Chaigne B, Léonard-Louis S, Mouthon L. Chaigne B, et al. Autoimmun Rev. 2023 Feb;22(2):103261. doi: 10.1016/j.autrev.2022.103261. Epub 2022 Dec 20. Autoimmun Rev. 2023. PMID: 36549354 Review.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.
Expanding the spectrum of HIV-associated myopathy.
Landon-Cardinal O, Gallay L, Dubourg O, Maisonobe T, Léonard-Louis S, Beniken D, Simon A, Behin A, Stojkovic T, Duyckaerts C, Breton G, Rigolet A, Fain O, Meyohas MC, Leport C, Valantin MA, Vittecoq D, Bergmann JF, Hanslik T, Chauveheid MP, Amoura Z, de Broucker T, Eymard B, Beaudequin N, Benveniste O, Allenbach Y. Landon-Cardinal O, et al. J Neurol Neurosurg Psychiatry. 2019 Nov;90(11):1296-1298. doi: 10.1136/jnnp-2018-319419. Epub 2019 Apr 11. J Neurol Neurosurg Psychiatry. 2019. PMID: 30975823 No abstract available.
Rare myopathy associated to MGUS, causing heart failure and responding to chemotherapy.
Belhomme N, Maamar A, Le Gallou T, Minot-Myhié MC, Larralde A, Champtiaux N, Benveniste O, Leonard-Louis S, Decaux O, Lescoat A, Le Tulzo Y. Belhomme N, et al. Ann Hematol. 2017 Apr;96(4):695-696. doi: 10.1007/s00277-016-2916-3. Epub 2017 Jan 5. Ann Hematol. 2017. PMID: 28058489 Free article. No abstract available.
Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis.
Dieudonné Y, Allenbach Y, Benveniste O, Leonard-Louis S, Hervier B, Mariampillai K, Nespola B, Lannes B, Echaniz-Laguna A, Wendling D, Von Frenckell C, Poursac N, Mortier E, Lavigne C, Hinschberger O, Magnant J, Gottenberg JE, Geny B, Sibilia J, Meyer A. Dieudonné Y, et al. Neurology. 2020 Mar 3;94(9):e910-e920. doi: 10.1212/WNL.0000000000008863. Epub 2019 Dec 27. Neurology. 2020. PMID: 31882529
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, Lefeuvre C, Cagin U, Streichenberger N, Leonard-Louis S, Brochier G, Madelaine A, Labasse C, Hedberg-Oldfors C, Krag T, Jauze L, Fabregue J, Labrune P, Milisenda J, Nadaj-Pakleza A, Sacconi S, Mingozzi F, Ronzitti G, Petit F, Schoser B, Oldfors A, Vissing J, Romero NB, Nishino I, Malfatti E. Laforêt P, et al. Acta Neuropathol Commun. 2019 Oct 28;7(1):167. doi: 10.1186/s40478-019-0815-2. Acta Neuropathol Commun. 2019. PMID: 31661040 Free PMC article.
[Sarcoid-like granulomatosis associated with eosinophilic fasciitis].
Zuelgaray E, Sallé de Chou C, Vignon-Pennamen MD, Battistella M, Leonard-Louis S, Hefez L, Guibal F, Bagot M, Bouaziz JD. Zuelgaray E, et al. Ann Dermatol Venereol. 2018 Jan;145(1):37-42. doi: 10.1016/j.annder.2017.08.012. Epub 2017 Sep 28. Ann Dermatol Venereol. 2018. PMID: 28967434 Review. French.
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, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. Pareyson D, et al. Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27. Ann Neurol. 2019. PMID: 31070812 Free PMC article.
66 results