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Page 1
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: gomez tortosa e. 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.
TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.
Gómez-Tortosa E, Baradaran-Heravi Y, Dillen L, Choudhury NR, Agüero Rabes P, Pérez-Pérez J, Kocoglu C, Sainz MJ, Ruiz González A, Téllez R, Cremades-Jimeno L, Cárdaba B; EU EOD Consortium; Van Broeckhoven C, Michlewski G, van der Zee J. Gómez-Tortosa E, et al. Alzheimers Dement. 2023 Jul;19(7):2805-2815. doi: 10.1002/alz.12913. Epub 2022 Dec 28. Alzheimers Dement. 2023. PMID: 36576960
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: gomez tortosa e. Int J Mol Sci. 2023 Mar 24;24(7):6113. doi: 10.3390/ijms24076113. Int J Mol Sci. 2023. PMID: 37047093 Free PMC article.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Alvarez-Mora MI, Blanco-Palmero VA, Quesada-Espinosa JF, Arteche-Lopez AR, Llamas-Velasco S, Palma Milla C, Lezana Rosales JM, Gomez-Manjon I, Hernandez-Lain A, Jimenez Almonacid J, Gil-Fournier B, Ramiro-León S, González-Sánchez M, Herrero-San Martín AO, Pérez-Martínez DA, Gómez-Tortosa E, Carro E, Bartolomé F, Gomez-Rodriguez MJ, Sanchez-Calvin MT, Villarejo-Galende A, Moreno-Garcia M. Alvarez-Mora MI, et al. Among authors: gomez tortosa e. Int J Mol Sci. 2022 Apr 11;23(8):4230. doi: 10.3390/ijms23084230. Int J Mol Sci. 2022. PMID: 35457051 Free PMC article.
Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum.
Jansen WJ, Janssen O, Tijms BM, Vos SJB, Ossenkoppele R, Visser PJ; Amyloid Biomarker Study Group; Aarsland D, Alcolea D, Altomare D, von Arnim C, Baiardi S, Baldeiras I, Barthel H, Bateman RJ, Van Berckel B, Binette AP, Blennow K, Boada M, Boecker H, Bottlaender M, den Braber A, Brooks DJ, Van Buchem MA, Camus V, Carill JM, Cerman J, Chen K, Chételat G, Chipi E, Cohen AD, Daniels A, Delarue M, Didic M, Drzezga A, Dubois B, Eckerström M, Ekblad LL, Engelborghs S, Epelbaum S, Fagan AM, Fan Y, Fladby T, Fleisher AS, Van der Flier WM, Förster S, Fortea J, Frederiksen KS, Freund-Levi Y, Frings L, Frisoni GB, Fröhlich L, Gabryelewicz T, Gertz HJ, Gill KD, Gkatzima O, Gómez-Tortosa E, Grimmer T, Guedj E, Habeck CG, Hampel H, Handels R, Hansson O, Hausner L, Hellwig S, Heneka MT, Herukka SK, Hildebrandt H, Hodges J, Hort J, Huang CC, Iriondo AJ, Itoh Y, Ivanoiu A, Jagust WJ, Jessen F, Johannsen P, Johnson KA, Kandimalla R, Kapaki EN, Kern S, Kilander L, Klimkowicz-Mrowiec A, Klunk WE, Koglin N, Kornhuber J, Kramberger MG, Kuo HC, Van Laere K, Landau SM, Landeau B, Lee DY, de Leon M, Leyton CE, Lin KJ, Lleó A, Löwenmark M, Madsen K, Maier W, Marcusson J, Marquié M, Martinez-Lage P,… See abstract for full author list ➔ Jansen WJ, et al. Among authors: gomez tortosa e. JAMA Neurol. 2022 Mar 1;79(3):228-243. doi: 10.1001/jamaneurol.2021.5216. JAMA Neurol. 2022. PMID: 35099509
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Barbier M, Camuzat A, Hachimi KE, Guegan J, Rinaldi D, Lattante S, Houot M, Sánchez-Valle R, Sabatelli M, Antonell A, Molina-Porcel L, Clot F, Couratier P, van der Ende E, van der Zee J, Manzoni C, Camu W, Cazeneuve C, Sellal F, Didic M, Golfier V, Pasquier F, Duyckaerts C, Rossi G, Bruni AC, Alvarez V, Gómez-Tortosa E, de Mendonça A, Graff C, Masellis M, Nacmias B, Oumoussa BM, Jornea L, Forlani S; French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU -EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network, Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS; Van Deerlin V, Rohrer JD, Gelpi E, Rademakers R, Van Swieten J, Le Guern E, Van Broeckhoven C, Ferrari R, Génin E, Brice A, Le Ber I. Barbier M, et al. Among authors: gomez tortosa e. Brain. 2021 Oct 22;144(9):2798-2811. doi: 10.1093/brain/awab171. Brain. 2021. PMID: 34687211
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: gomez tortosa e. 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.
Elevated levels of Secreted-Frizzled-Related-Protein 1 contribute to Alzheimer's disease pathogenesis.
Esteve P, Rueda-Carrasco J, Inés Mateo M, Martin-Bermejo MJ, Draffin J, Pereyra G, Sandonís Á, Crespo I, Moreno I, Aso E, Garcia-Esparcia P, Gomez-Tortosa E, Rábano A, Fortea J, Alcolea D, Lleo A, Heneka MT, Valpuesta JM, Esteban JA, Ferrer I, Domínguez M, Bovolenta P. Esteve P, et al. Among authors: gomez tortosa e. Nat Neurosci. 2019 Aug;22(8):1258-1268. doi: 10.1038/s41593-019-0432-1. Epub 2019 Jul 15. Nat Neurosci. 2019. PMID: 31308530 Free article.
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
78 results