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Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.
Blanco-Arias P, Medina Martínez I, Arrabal Fernández L, Rivas Infante E, Salmerón Fernández MJ, González Hervás C, Azcón González de Aguilar P, Armengol L, Pedrinaci S, Perin F. Blanco-Arias P, et al. Neuromuscul Disord. 2023 Jul;33(7):557-561. doi: 10.1016/j.nmd.2023.05.008. Epub 2023 May 23. Neuromuscul Disord. 2023. PMID: 37329680
Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene.
Larrañaga-Moreira JM, Blanco-Arias P, San Millán-Tejado B, Barge-Caballero G, Crespo-Leiro MG, Barriales-Villa R. Larrañaga-Moreira JM, et al. Among authors: blanco arias p. Rev Esp Cardiol (Engl Ed). 2021 Nov;74(11):987-989. doi: 10.1016/j.rec.2021.04.015. Epub 2021 Jun 11. Rev Esp Cardiol (Engl Ed). 2021. PMID: 34120883 English, Spanish. No abstract available.
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.
Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ. Arias M, et al. Among authors: blanco arias p. Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrl.2019.01.004. Epub 2019 May 15. Neurologia (Engl Ed). 2022. PMID: 31103315 Free article. English, Spanish.
Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.
García-García J, Fernández-García MA, Blanco-Arias P, Díaz-Maroto-Cicuendez MI, Salmerón-Martínez F, Hidalgo-Olivares VM, Olivé M. García-García J, et al. Among authors: blanco arias p. Neuromuscul Disord. 2018 Nov;28(11):952-955. doi: 10.1016/j.nmd.2018.08.003. Epub 2018 Aug 13. Neuromuscul Disord. 2018. PMID: 30241883
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T. Sivera R, et al. Among authors: blanco arias p. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
19 results