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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. Among authors: sainz mj. 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. Among authors: sainz mj. 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
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: sainz mj. 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.
[No title available]
[No authors listed] [No authors listed] PMID: 35108817
[No title available]
[No authors listed] [No authors listed] PMID: 35109199
ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels.
Agüero-Rabes P, Pérez-Pérez J, Cremades-Jimeno L, García-Ayllón MS, Gea-González A, Sainz MJ, Mahillo-Fernández I, Téllez R, Cárdaba B, Sáez-Valero J, Gómez-Tortosa E. Agüero-Rabes P, et al. Among authors: sainz mj. Int J Mol Sci. 2023 Mar 24;24(7):6113. doi: 10.3390/ijms24076113. Int J Mol Sci. 2023. PMID: 37047093 Free PMC article.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sánchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gómez-Tortosa E, Agüero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Bråthen G, Sando SB, Grøntvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gómez-Núñez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Durães J, Lima M, Tábuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleó A, Fortea J, Alcolea D, Illán-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. Swift IJ, et al. Among authors: sainz mj. Alzheimers Res Ther. 2024 Mar 28;16(1):66. doi: 10.1186/s13195-024-01420-z. Alzheimers Res Ther. 2024. PMID: 38539243 Free PMC article.
37 results