Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

134 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
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.
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.
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.
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.
134 results