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Page 1
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
26 results