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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: 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.
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.
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Lupo V, Frasquet M, Sánchez-Monteagudo A, Pelayo-Negro AL, García-Sobrino T, Sedano MJ, Pardo J, Misiego M, García-García J, Sobrido MJ, Martínez-Rubio MD, Chumillas MJ, Vílchez JJ, Vázquez-Costa JF, Espinós C, Sevilla T. Lupo V, et al. Among authors: frasquet m. J Med Genet. 2018 Dec;55(12):814-823. doi: 10.1136/jmedgenet-2018-105650. Epub 2018 Nov 10. J Med Genet. 2018. PMID: 30415211
Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?
Vázquez-Costa JF, Pedrola Vidal L, Moreau-Le Lan S, Teresí-Copoví I, Frasquet M, Chumillas MJ, Sevilla T. Vázquez-Costa JF, et al. Among authors: frasquet m. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):172-175. doi: 10.1080/21678421.2019.1582671. Epub 2019 Mar 20. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30889971
Clinical spectrum of BICD2 mutations.
Frasquet M, Camacho A, Vílchez R, Argente-Escrig H, Millet E, Vázquez-Costa JF, Silla R, Sánchez-Monteagudo A, Vílchez JJ, Espinós C, Lupo V, Sevilla T. Frasquet M, et al. Eur J Neurol. 2020 Jul;27(7):1327-1335. doi: 10.1111/ene.14173. Epub 2020 Mar 16. Eur J Neurol. 2020. PMID: 32056343
Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.
Martín-Aguilar L, Pascual-Goñi E, Lleixà C, Frasquet M, Argente H, Cano-Abascal A, Diaz-Manera J, Cortés-Vicente E, Pelayo-Negro AL, Sevilla T, Rojas-García R, Querol L. Martín-Aguilar L, et al. Among authors: frasquet m. Neurology. 2020 Jul 28;95(4):e427-e433. doi: 10.1212/WNL.0000000000009189. Epub 2020 Feb 26. Neurology. 2020. PMID: 32102977
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