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Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Fernandez Santiago R, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Infante Ceberio J, Pastor P, Paradas C, Dols-Icardo O, Traynor BJ, Feldman EL, Goutman SA; Spanish Neurological Consortium. Dou J, et al. Among authors: paradas c. Neurol Genet. 2023 May 31;9(4):e200079. doi: 10.1212/NXG.0000000000200079. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37293291 Free PMC article.
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E. Illa I, et al. Among authors: paradas c. Neurology. 2007 Apr 17;68(16):1284-9. doi: 10.1212/01.wnl.0000256768.79353.60. Epub 2007 Feb 7. Neurology. 2007. PMID: 17287450
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group; Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A. García-Redondo A, et al. Among authors: paradas c. Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22936364
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vázquez-Costa JF, Borrego-Hernández D, Paradas C, Gómez-Caravaca MT, Rojas-Garcia R, Varona L, Povedano M, García-Sobrino T, Jericó Pascual I, Gutiérrez A, Riancho J, Turon-Sans J, Assialioui A, Pérez-Tur J, Sevilla T, Esteban Pérez J, García-Redondo A; ALSGESCO. Vázquez-Costa JF, et al. Among authors: paradas c. Eur J Neurol. 2022 Dec 9. doi: 10.1111/ene.15661. Online ahead of print. Eur J Neurol. 2022. PMID: 36484631
TK2 mutation presenting as indolent myopathy.
Paradas C, Gutiérrez Ríos P, Rivas E, Carbonell P, Hirano M, DiMauro S. Paradas C, et al. Neurology. 2013 Jan 29;80(5):504-6. doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Neurology. 2013. PMID: 23303857 Free PMC article.
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Álvarez-Velasco R, Gutiérrez-Gutiérrez G, Trujillo JC, Martínez E, Segovia S, Arribas-Velasco M, Fernández G, Paradas C, Vélez-Gómez B, Casasnovas C, Nedkova V, Guerrero-Sola A, Ramos-Fransi A, Martínez-Piñeiro A, Pardo J, Sevilla T, Gómez-Caravaca MT, López de Munain A, Jericó I, Pelayo-Negro AL, Martín MA, Morgado Y, Mendoza MD, Pérez-Pérez H, Rojas-García R, Turon-Sans J, Querol L, Gallardo E, Illa I, Cortés-Vicente E. Álvarez-Velasco R, et al. Among authors: paradas c. Eur J Neurol. 2021 Jun;28(6):2083-2091. doi: 10.1111/ene.14820. Epub 2021 Mar 30. Eur J Neurol. 2021. PMID: 33721382
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Domínguez-González C, Fernández-Torrón R, Moore U, de Fuenmayor-Fernández de la Hoz CP, Vélez-Gómez B, Cabezas JA, Alonso-Pérez J, González-Mera L, Olivé M, García-García J, Moris G, León Hernández JC, Muelas N, Servian-Morilla E, Martin MA, Díaz-Manera J, Paradas C. Domínguez-González C, et al. Among authors: paradas c. J Neurol. 2022 Jul;269(7):3550-3562. doi: 10.1007/s00415-021-10957-0. Epub 2022 Mar 14. J Neurol. 2022. PMID: 35286480 Free PMC article.
82 results