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Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D. Avila-Smirnow D, et al. Neuromuscul Disord. 2020 Jul;30(7):554-561. doi: 10.1016/j.nmd.2020.04.006. Epub 2020 May 19. Neuromuscul Disord. 2020. PMID: 32593548
Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.
Avila-Smirnow D, Boutron A, Beytía-Reyes MLÁ, Contreras-Olea O, Caicedo-Feijoo A, Gejman-Enríquez R, Escobar-Henríquez R, Förster-Mujica J. Avila-Smirnow D, et al. J Med Case Rep. 2018 Aug 28;12(1):249. doi: 10.1186/s13256-018-1702-3. J Med Case Rep. 2018. PMID: 30149802 Free PMC article.
Pediatric sciatic neuropathy: Clinical presentation and long term follow up.
Jaque-Almendras C, Escobar RG, Caicedo-Feijoo A, Beytía-Reyes MLA, Correa-Pérez S, Gejman-Enríquez R, Cruz-Quiroga JP, Contreras-Olea O, Avila-Smirnow D. Jaque-Almendras C, et al. Among authors: avila smirnow d. Rev Chil Pediatr. 2020 Feb;91(1):85-93. doi: 10.32641/rchped.v91i1.1355. Epub 2020 Mar 12. Rev Chil Pediatr. 2020. PMID: 32730417 Free article. English, Spanish.
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N. Vuillaumier-Barrot S, et al. Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005. Neuromuscul Disord. 2009. PMID: 19179078
[Influenza A-associated acute necrotizing encephalopathy].
Muñoz-Osores E, Sánchez Ortiz N, Andresen Vásquez M, Ávila-Smirnow D, Valle Muñoz P, Barriga Gonzaga J. Muñoz-Osores E, et al. Among authors: avila smirnow d. Rev Chil Pediatr. 2020 Dec;91(6):941-946. doi: 10.32641/rchped.vi91i6.1665. Epub 2020 Sep 24. Rev Chil Pediatr. 2020. PMID: 33861832 Free article. Spanish.
[Hypotonic infant].
Alarcón Benítez D, de Los Angeles Beytía Reyes M, Escobar RG, Núñez Farías A, López Bohner ME, Avila-Smirnow D. Alarcón Benítez D, et al. Among authors: avila smirnow d. Andes Pediatr. 2022 Aug;93(4):458-469. doi: 10.32641/andespediatr.v93i4.4050. Andes Pediatr. 2022. PMID: 37906843 Free article. Review. Spanish.
15 results