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α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease.
Agüero P, Sainz MJ, García-Ayllón MS, Sáez-Valero J, Téllez R, Guerrero-López R, Pérez-Pérez J, Jiménez-Escrig A, Gómez-Tortosa E. Agüero P, et al. Among authors: guerrero lopez r. Alzheimers Res Ther. 2020 Oct 31;12(1):139. doi: 10.1186/s13195-020-00708-0. Alzheimers Res Ther. 2020. PMID: 33129344 Free PMC article.
SORL1 Variants in Familial Alzheimer's Disease.
Gómez-Tortosa E, Ruggiero M, Sainz MJ, Villarejo-Galende A, Prieto-Jurczynska C, Venegas Pérez B, Ordás C, Agüero P, Guerrero-López R, Pérez-Pérez J. Gómez-Tortosa E, et al. J Alzheimers Dis. 2018;61(4):1275-1281. doi: 10.3233/JAD-170590. J Alzheimers Dis. 2018. PMID: 29376855
Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.
Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S, Franco-Macías E, Olivié L, Gallego J, Guerrero-López R, Trujillo-Tiebas MJ, Ayuso C, García Ruiz P, Pérez-Pérez J, Sainz MJ. Gómez-Tortosa E, et al. J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922. J Alzheimers Dis. 2016. PMID: 26967212
Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation.
Gómez-Tortosa E, Baradaran-Heravi Y, González Alvarez V, Sainz MJ, Prieto-Jurczynska C, Guerrero-López R, Agüero Rabes P, Van Broeckhoven C, van der Zee J, Rábano Gutiérrez A; EU EOD Consortium. Gómez-Tortosa E, et al. Neurobiol Aging. 2019 Apr;76:214.e11-214.e15. doi: 10.1016/j.neurobiolaging.2018.11.010. Epub 2018 Nov 20. Neurobiol Aging. 2019. PMID: 30545478
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
Gómez-Tortosa E, Van der Zee J, Ruggiero M, Gijselinck I, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Navarro E, Sainz MJ, Pérez-Pérez J, Cruts M, Van Broeckhoven C, Guerrero-López R; EU EOD Consortium. Gómez-Tortosa E, et al. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):996-997. doi: 10.1136/jnnp-2016-315250. Epub 2017 Apr 1. J Neurol Neurosurg Psychiatry. 2017. PMID: 28365590 No abstract available.
Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.
Guerrero-López R, Ortega-Moreno L, Giráldez BG, Alarcón-Morcillo C, Sánchez-Martín G, Nieto-Barrera M, Gutiérrez-Delicado E, Gómez-Garre P, Martínez-Bermejo A, García-Peñas JJ, Serratosa JM. Guerrero-López R, et al. Epilepsy Res. 2014 Oct;108(8):1274-8. doi: 10.1016/j.eplepsyres.2014.06.011. Epub 2014 Jul 7. Epilepsy Res. 2014. PMID: 25060993
32 results