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A dominant STIM1 mutation causes Stormorken syndrome.
Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E. Misceo D, et al. Among authors: de paula am. Hum Mutat. 2014 May;35(5):556-64. doi: 10.1002/humu.22544. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24619930
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
[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.
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
Nailfold videocapillaroscopy alterations in dermatomyositis, antisynthetase syndrome, overlap myositis, and immune-mediated necrotizing myopathy.
Soubrier C, Seguier J, Di Costanzo MP, Ebbo M, Bernit E, Jean E, Veit V, Swiader L, Salort-Campana E, Attarian S, De Paula AM, Kaplanski G, Durand JM, Harlé JR, Schleinitz N. Soubrier C, et al. Among authors: de paula am. Clin Rheumatol. 2019 Dec;38(12):3451-3458. doi: 10.1007/s10067-019-04710-2. Epub 2019 Aug 22. Clin Rheumatol. 2019. PMID: 31440919
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
217 results