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Page 1
A SCN4A mutation causing paramyotonia congenita.
Palma C, Prior C, Gómez-González C, Rodríguez-Antolin C, Martínez-Montero P, Pérez de Ayala L, Pascual SI, Molano Mateos J. Palma C, et al. Among authors: pascual si. Neuromuscul Disord. 2017 Dec;27(12):1123-1125. doi: 10.1016/j.nmd.2017.09.008. Epub 2017 Sep 25. Neuromuscul Disord. 2017. PMID: 29111379
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Gómez-González C, Rosas-Alonso R, Rodríguez-Antolín C, García-Guede A, Ibáñez de Caceres I, Sanguino J, Pascual SI, Esteban I, Pozo AD, Mori MÁ, Torres RJ, Prior C. Gómez-González C, et al. Among authors: pascual si. Eur J Med Genet. 2021 Apr;64(4):104170. doi: 10.1016/j.ejmg.2021.104170. Epub 2021 Feb 19. Eur J Med Genet. 2021. PMID: 33618039
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.
Gómez-González C, Esteban-Rodríguez MI, Ruano Y, Vallespín E, Lapunzina P, Martínez P, Pascual SI, Molano J, Prior C. Gómez-González C, et al. Among authors: pascual si. Ann Indian Acad Neurol. 2017 Apr-Jun;20(2):164-165. doi: 10.4103/aian.AIAN_432_16. Ann Indian Acad Neurol. 2017. PMID: 28615910 Free PMC article. No abstract available.
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: pascual si. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Among authors: pascual si. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.
Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F, Cuezva JM. Soldevilla B, et al. Among authors: pascual si. PLoS One. 2017 Jun 2;12(6):e0178376. doi: 10.1371/journal.pone.0178376. eCollection 2017. PLoS One. 2017. PMID: 28575008 Free PMC article.
21 results