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Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Estève C, Roman C, DeLeusse C, Baravalle M, Bertaux K, Blanc F, Bourgeois P, Bresson V, Cano A, Coste ME, Delteil C, Lacoste C, Loosveld M, De Paula AM, Monnier AS, Secq V, Levy N, Badens C, Fabre A. Estève C, et al. Among authors: de paula am. Eur J Med Genet. 2021 Oct;64(10):104294. doi: 10.1016/j.ejmg.2021.104294. Epub 2021 Aug 3. Eur J Med Genet. 2021. PMID: 34352414
Early thoracoscopic resection of an atypical upper extralobar sequestration.
Omnès V, Valla JS, Desvignes C, Blanc F, de Paula AM, de Lagausie P. Omnès V, et al. Among authors: de paula am, de lagausie p. Expert Rev Respir Med. 2014 Dec;8(6):673-5. doi: 10.1586/17476348.2014.960400. Epub 2014 Sep 14. Expert Rev Respir Med. 2014. PMID: 25219392
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
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.
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.
226 results