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Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Zereg E, Chaussenot A, Morel G, Bannwarth S, Sacconi S, Soriani MH, Attarian S, Cano A, Pouget J, Bellance R, Tranchant C, Lannes B, de Paula AM, Saadi Ait-El-Mkadem S, Chafino B, Berthet M, Fragaki K, Paquis-Flucklinger V, Rouzier C. Zereg E, et al. Among authors: de paula am. Hum Mutat. 2020 Aug;41(8):1394-1406. doi: 10.1002/humu.24037. Epub 2020 Jun 12. Hum Mutat. 2020. PMID: 32419253
A TPM3 mutation causing cap myopathy.
De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J. De Paula AM, et al. Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553118
[Necrotizing myopathies: From genetic to acquired forms].
Salort-Campana E, De Paula AM, Figarella-Branger D, Pouget J. Salort-Campana E, et al. Among authors: de paula am. Rev Med Interne. 2014 Jul;35(7):430-6. doi: 10.1016/j.revmed.2013.11.012. Epub 2013 Dec 19. Rev Med Interne. 2014. PMID: 24359726 Review. French.
Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy.
Lopez-Cuina M, Fernagut PO, Canron MH, Vital A, Lannes B, De Paula AM, Streichenberger N, Guehl D, Damier P, Eusebio A, Houeto JL, Tison F, Tranchant C, Viallet F, Witjas T, Thobois S, Meissner WG. Lopez-Cuina M, et al. Among authors: de paula am. Neurobiol Dis. 2018 Oct;118:155-160. doi: 10.1016/j.nbd.2018.07.016. Epub 2018 Jul 17. Neurobiol Dis. 2018. PMID: 30026036
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. Muscle Nerve. 2012 Dec;46(6):984-5. doi: 10.1002/mus.23509. Muscle Nerve. 2012. PMID: 23225398 No abstract available.
Correlation of clinicoserologic and pathologic classifications of inflammatory myopathies: study of 178 cases and guidelines for diagnosis.
Fernandez C, Bardin N, De Paula AM, Salort-Campana E, Benyamine A, Franques J, Schleinitz N, Weiller PJ, Pouget J, Pellissier JF, Figarella-Branger D. Fernandez C, et al. Among authors: de paula am. Medicine (Baltimore). 2013 Jan;92(1):15-24. doi: 10.1097/MD.0b013e31827ebba1. Medicine (Baltimore). 2013. PMID: 23269233 Free PMC article.
221 results