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A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Muelas N, Frasquet M, Más-Estellés F, Martí P, Martínez-Vicente L, Sevilla T, Azorín I, Poyatos-García J, Argente-Escrig H, Vílchez R, Vázquez-Costa JF, Bataller L, Vilchez JJ. Muelas N, et al. Among authors: frasquet m. Eur J Neurol. 2021 Apr;28(4):1356-1365. doi: 10.1111/ene.14630. Epub 2020 Dec 5. Eur J Neurol. 2021. PMID: 33151602
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N, Carretero-Vilarroig L, Martí P, Azorín I, Frasquet M, Poyatos-García J, Portela S, Martínez-Vicente L, Argente-Escrig H, Sivera R, Vázquez-Costa JF, Tárrega M, Más-Estellés F, Vílchez R, Bataller L, Aller E, Diago L, Fores-Toribio L, Sevilla T, Vilchez JJ. Muelas N, et al. Among authors: frasquet m. J Neurol. 2025 Jan 7;272(1):97. doi: 10.1007/s00415-024-12821-3. J Neurol. 2025. PMID: 39775307
Eculizumab for a catastrophic relapse in NMOSD: case report.
Gorriz D, Pérez-Miralles FC, Quintanilla-Bordás C, Alcalá C, Frasquet M, Casanova B. Gorriz D, et al. Among authors: frasquet m. Neurol Sci. 2024 Jan;45(1):249-251. doi: 10.1007/s10072-023-06971-x. Epub 2023 Jul 27. Neurol Sci. 2024. PMID: 37500991
The role of DNAJB2 in amyotrophic lateral sclerosis.
Frasquet M, Vázquez-Costa JF, Sevilla T. Frasquet M, et al. Brain. 2016 Oct;139(Pt 10):e57. doi: 10.1093/brain/aww154. Epub 2016 Jun 21. Brain. 2016. PMID: 27329769 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: frasquet m. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
26 results