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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Nguyen K, Puppo F, Roche S, Gaillard MC, Chaix C, Lagarde A, Pierret M, Vovan C, Olschwang S, Salort-Campana E, Attarian S, Bartoli M, Bernard R, Magdinier F, Levy N. Nguyen K, et al. Among authors: bartoli m. Hum Mutat. 2017 Oct;38(10):1432-1441. doi: 10.1002/humu.23304. Epub 2017 Aug 6. Hum Mutat. 2017. PMID: 28744936 Free article.
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.
Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N. Wein N, et al. Among authors: bartoli m. Neuromuscul Disord. 2010 Jan;20(1):57-60. doi: 10.1016/j.nmd.2009.08.004. Epub 2009 Oct 23. Neuromuscul Disord. 2010. PMID: 19854055
Further heterogeneity in myopathy with tubular aggregates?
De Paula AM, Bartoli M, Courrier S, Pouget J, Levy N, Pellissier JF, Figarella-Branger D, Krahn M, Attarian S. De Paula AM, et al. Among authors: bartoli m. Muscle Nerve. 2012 Dec;46(6):984-5. doi: 10.1002/mus.23509. Muscle Nerve. 2012. PMID: 23225398 No abstract available.
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Böhm J, et al. Among authors: bartoli m. Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332920 Free PMC article.
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S. Broucqsault N, et al. Among authors: bartoli m. Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17. Hum Mol Genet. 2013. PMID: 23777630
489 results