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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: 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.
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. Among authors: sainz mj. J Alzheimers Dis. 2018;61(4):1275-1281. doi: 10.3233/JAD-170590. J Alzheimers Dis. 2018. PMID: 29376855
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A. Gómez-Tortosa E, et al. Among authors: sainz mj. J Alzheimers Dis. 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292. J Alzheimers Dis. 2010. PMID: 20157243
Visual hallucinations and HLA class II antigens in cortical dementia.
Gómez-Tortosa E, Aguerri M, Sainz MJ, Losada M, García-Ruiz PJ, Cárdaba B. Gómez-Tortosa E, et al. Among authors: sainz mj. Dement Geriatr Cogn Disord. 2010;30(1):8-11. doi: 10.1159/000315545. Epub 2010 Jul 3. Dement Geriatr Cogn Disord. 2010. PMID: 20606439
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. Among authors: sainz mj. Alzheimers Dement. 2023 Jul;19(7):2805-2815. doi: 10.1002/alz.12913. Epub 2022 Dec 28. Alzheimers Dement. 2023. PMID: 36576960
Outcome of mild cognitive impairment comparing early memory profiles.
Gómez-Tortosa E, Mahillo-Fernández I, Guerrero R, Montoya J, Alonso A, Sainz MJ. Gómez-Tortosa E, et al. Among authors: sainz mj. Am J Geriatr Psychiatry. 2012 Oct;20(10):827-35. doi: 10.1097/JGP.0b013e31823038c6. Am J Geriatr Psychiatry. 2012. PMID: 21934475
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. Among authors: sainz mj. 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.
37 results