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Page 1
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M, Díaz-Manera J. Fernández-Simón E, et al. Among authors: segovia s. Mol Genet Metab. 2019 Sep-Oct;128(1-2):129-136. doi: 10.1016/j.ymgme.2019.07.013. Epub 2019 Jul 23. Mol Genet Metab. 2019. PMID: 31378569 Clinical Trial.
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.
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.
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.
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
Nuñez-Peralta C, Alonso-Pérez J, Llauger J, Segovia S, Montesinos P, Belmonte I, Pedrosa I, Montiel E, Alonso-Jiménez A, Sánchez-González J, Martínez-Noguera A, Illa I, Díaz-Manera J. Nuñez-Peralta C, et al. Among authors: segovia s. J Cachexia Sarcopenia Muscle. 2020 Aug;11(4):1032-1046. doi: 10.1002/jcsm.12555. Epub 2020 Mar 4. J Cachexia Sarcopenia Muscle. 2020. PMID: 32129012 Free PMC article.
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suárez-Cuartín G, Gallardo E, Illa I, Díaz-Manera J; Spanish Pompe Study Group. Figueroa-Bonaparte S, et al. Among authors: segovia s. PLoS One. 2016 Oct 6;11(10):e0163493. doi: 10.1371/journal.pone.0163493. eCollection 2016. PLoS One. 2016. PMID: 27711114 Free PMC article.
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.
Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients.
Reyes-Leiva D, Alonso-Pérez J, Mayos M, Nuñez-Peralta C, Llauger J, Belmonte I, Pedrosa-Hernández I, Segovia S, Díaz-Manera J. Reyes-Leiva D, et al. Among authors: segovia s. Front Neurol. 2021 Mar 1;12:621257. doi: 10.3389/fneur.2021.621257. eCollection 2021. Front Neurol. 2021. PMID: 33732206 Free PMC article.
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.
133 results