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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, 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.
Cardiomuscular Biomarkers in the Diagnosis and Prognostication of Immune Checkpoint Inhibitor Myocarditis.
Lehmann LH, Heckmann MB, Bailly G, Finke D, Procureur A, Power JR, Stein F, Bretagne M, Ederhy S, Fenioux C, Hamwy O, Funck-Brentano E, Romano E, Pieroni L, Münster JP, Allenbach Y, Anquetil C, Leonard-Louis S, Palaskas NL, Hayek SS, Katus HA, Giannitsis E, Frey N, Kaya Z, Moslehi J, Prifti E, Salem JE. Lehmann LH, et al. Circulation. 2023 Aug 8;148(6):473-486. doi: 10.1161/CIRCULATIONAHA.123.062405. Epub 2023 Jun 15. Circulation. 2023. PMID: 37317858 Free PMC article.
The role of electrodiagnosis with long exercise test in mcardle disease.
Semplicini C, Hézode-Arzel M, Laforêt P, Béhin A, Leonard-Louis S, Hogrel JY, Petit F, Eymard B, Stojkovic T, Fournier E. Semplicini C, et al. Muscle Nerve. 2018 Jan 19. doi: 10.1002/mus.26074. Online ahead of print. Muscle Nerve. 2018. PMID: 29350794
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.
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.
Peretti A, Perie M, Vincent D, Bouhour F, Dieterich K, Mallaret M, Duval F, Goizet C, Juntas-Morales R, Magy L, Solé G, Nollet S, Not A, Léonard-Louis S, Francou B, Leguern E, Lia AS, Magdelaine C, Latour P, Stojkovic T. Peretti A, et al. Eur J Hum Genet. 2019 Sep;27(9):1406-1418. doi: 10.1038/s41431-019-0403-8. Epub 2019 Apr 17. Eur J Hum Genet. 2019. PMID: 30996334 Free PMC article.
66 results