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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: segovia s. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: segovia s. Med Clin (Barc). 2020 Feb 14;154(3):80-85. doi: 10.1016/j.medcli.2019.03.036. Epub 2019 Jun 26. Med Clin (Barc). 2020. PMID: 31253477 English, Spanish.
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.
Cortés-Vicente E, Álvarez-Velasco R, Segovia S, Paradas C, Casasnovas C, Guerrero-Sola A, Pardo J, Ramos-Fransi A, Sevilla T, López de Munain A, Gómez MT, Jericó I, Gutiérrez-Gutiérrez G, Pelayo-Negro AL, Martín MA, Mendoza MD, Morís G, Rojas-Garcia R, Díaz-Manera J, Querol L, Gallardo E, Vélez B, Albertí MA, Galán L, García-Sobrino T, Martínez-Piñeiro A, Lozano-Veintimilla A, Fernández-Torrón R, Cano-Abascal Á, Illa I. Cortés-Vicente E, et al. Among authors: segovia s. Neurology. 2020 Mar 17;94(11):e1171-e1180. doi: 10.1212/WNL.0000000000008903. Epub 2020 Feb 18. Neurology. 2020. PMID: 32071167 Free PMC article.
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.
Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sánchez-González J, Alonso-Jiménez A, Gallardo E, Illa I; Spanish Pompe group; Díaz-Manera J. Figueroa-Bonaparte S, et al. Among authors: segovia s. Sci Rep. 2018 Jul 18;8(1):10898. doi: 10.1038/s41598-018-29170-7. Sci Rep. 2018. PMID: 30022036 Free PMC article.
PDGF-BB serum levels are decreased in adult onset Pompe patients.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suárez-Calvet X, Alonso-Pérez J, Segovia S, Nuñez-Peralta C, Llauger J, Mayos M, Illa I; Spanish Pompe Study Group; Díaz-Manera J. Fernández-Simón E, et al. Among authors: segovia s. Sci Rep. 2019 Feb 14;9(1):2139. doi: 10.1038/s41598-018-38025-0. Sci Rep. 2019. PMID: 30765719 Free PMC article.
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Álvarez-Velasco R, Gutiérrez-Gutiérrez G, Trujillo JC, Martínez E, Segovia S, Arribas-Velasco M, Fernández G, Paradas C, Vélez-Gómez B, Casasnovas C, Nedkova V, Guerrero-Sola A, Ramos-Fransi A, Martínez-Piñeiro A, Pardo J, Sevilla T, Gómez-Caravaca MT, López de Munain A, Jericó I, Pelayo-Negro AL, Martín MA, Morgado Y, Mendoza MD, Pérez-Pérez H, Rojas-García R, Turon-Sans J, Querol L, Gallardo E, Illa I, Cortés-Vicente E. Álvarez-Velasco R, et al. Among authors: segovia s. Eur J Neurol. 2021 Jun;28(6):2083-2091. doi: 10.1111/ene.14820. Epub 2021 Mar 30. Eur J Neurol. 2021. PMID: 33721382
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.
Alonso-Jiménez A, Fernández-Simón E, Natera-de Benito D, Ortez C, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Piñol-Jurado P, Carrasco-Rozas A, Suárez-Calvet X, Jimenez-Mallebrera C, Nascimento A, Llauger J, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, Gallardo E, Illa I, Díaz-Manera J. Alonso-Jiménez A, et al. Among authors: segovia s. Front Neurol. 2021 Jun 11;12:659922. doi: 10.3389/fneur.2021.659922. eCollection 2021. Front Neurol. 2021. PMID: 34177765 Free PMC article.
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group; Díaz-Manera J, Gallardo E. Carrasco-Rozas A, et al. Among authors: segovia s. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12. Ann Clin Transl Neurol. 2019. PMID: 31353854 Free PMC article. Clinical Trial.
133 results