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Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, Muelas N, Castañón MJ, Wiche G, Herrmann H, Vilchez JJ, Schröder R. Argente-Escrig H, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(2):352-356. doi: 10.1111/nan.12652. Epub 2020 Aug 23. Neuropathol Appl Neurobiol. 2021. PMID: 32757300 No abstract available.
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
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: argente escrig h. Eur J Neurol. 2021 Apr;28(4):1356-1365. doi: 10.1111/ene.14630. Epub 2020 Dec 5. Eur J Neurol. 2021. PMID: 33151602
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V. Frasquet M, et al. Among authors: argente escrig h. Eur J Neurol. 2021 Apr;28(4):1334-1343. doi: 10.1111/ene.14700. Epub 2021 Jan 10. Eur J Neurol. 2021. PMID: 33369814
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig H, Vílchez JJ, Frasquet M, Muelas N, Azorín I, Vílchez R, Millet-Sancho E, Pitarch I, Tomás-Vila M, Vázquez-Costa JF, Mas-Estellés F, Marco-Marín C, Espinós C, Serrano-Lorenzo P, Martin MA, Lupo V, Sevilla T. Argente-Escrig H, et al. Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12817. doi: 10.1111/nan.12817. Epub 2022 Apr 10. Neuropathol Appl Neurobiol. 2022. PMID: 35342985
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R, Lupo V, Frasquet M, Argente-Escrig H, Alonso-Pérez J, Díaz-Manera J, Querol L, Del Mar García-Romero M, Ignacio Pascual S, García-Sobrino T, Paradas C, Francisco Vázquez-Costa J, Muelas N, Millet E, Jesús Vílchez J, Espinós C, Sevilla T. Sivera R, et al. Among authors: argente escrig h. Eur J Neurol. 2021 Sep;28(9):3001-3011. doi: 10.1111/ene.15001. Epub 2021 Jul 18. Eur J Neurol. 2021. PMID: 34189813 Free article.
18 results