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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A. Armirola-Ricaurte C, et al. Among authors: espinos c. Genet Med. 2024 Jun;26(6):101117. doi: 10.1016/j.gim.2024.101117. Epub 2024 Mar 6. Genet Med. 2024. PMID: 38459834 Free PMC article.
Profile of plasma microRNAs as a potential biomarker of Wilson's disease.
Sánchez-Monteagudo A, Ripollés E, Murillo O, Domènech S, Álvarez-Sauco M, Girona E, Sastre-Bataller I, Bono A, García-Villarreal L, Tugores A, García-García F, González-Aseguinolaza G, Berenguer M, Espinós C. Sánchez-Monteagudo A, et al. Among authors: espinos c. J Gastroenterol. 2024 Oct;59(10):921-931. doi: 10.1007/s00535-024-02135-6. Epub 2024 Jul 26. J Gastroenterol. 2024. PMID: 39060521 Free PMC article.
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Sivera R, Pelayo-Negro AL, Jericó I, Domínguez-González C, Horga A, Rodriguez De Rivera FJ, Gallardo E, Tembl JI, Bermejo-Guerrero L, Pagola Lorz MI, Azorín I, Cordoba M, Fenollar-Cortés MDM, Millet E, Vilchez JJ, Espinós C, Apellániz-Ruiz M, Sevilla T. Sivera R, et al. Among authors: espinos c. Neurology. 2024 Apr 9;102(7):e209174. doi: 10.1212/WNL.0000000000209174. Epub 2024 Mar 21. Neurology. 2024. PMID: 38513194
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: espinos c. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
de Fuenmayor-Fernández de la Hoz CP, Lupo V, Bermejo-Guerrero L, Martín-Jiménez P, Hernández-Laín A, Olivé M, Gallardo E, Esteban-Pérez J, Espinós C, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Among authors: espinos c. J Neurol. 2024 Feb;271(2):986-994. doi: 10.1007/s00415-023-12039-9. Epub 2023 Oct 31. J Neurol. 2024. PMID: 37907725
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Lafhal K, Sabir ES, Hakmaoui A, Hammoud M, Aimrane A, Najeh S, Assiri I, Berrachid A, Imad N, Boujemaa CA, Aziz F, El Hanafi FZ, Lalaoui A, Aamri H, Boyko I, Sánchez-Monteagudo A, Espinós C, Sab IA, Aboussair N, Bourrahouat A, Fdil N. Lafhal K, et al. Among authors: espinos c. Mol Genet Metab Rep. 2023 Jun 7;36:100984. doi: 10.1016/j.ymgmr.2023.100984. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37323222 Free PMC article.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
113 results