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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: baradaran heravi y. Alzheimers Dement. 2023 Jul;19(7):2805-2815. doi: 10.1002/alz.12913. Epub 2022 Dec 28. Alzheimers Dement. 2023. PMID: 36576960
Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.
van der Zee J, Dillen L, Baradaran-Heravi Y, Gossye H, Koçoğlu C, Cuyt I, Dermaut B, Sieben A, Baets J, De Jonghe P, Vandenberghe R, De Deyn P, Cras P, Engelborghs S, Van Broeckhoven C; BELNEU Consortium. van der Zee J, et al. Among authors: baradaran heravi y. Neurobiol Dis. 2021 Aug;156:105421. doi: 10.1016/j.nbd.2021.105421. Epub 2021 Jun 9. Neurobiol Dis. 2021. PMID: 34118419 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. Among authors: baradaran heravi y. 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
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.
Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, Wilke C, Simon-Sanchez J, Rojas-Garcia R, Turon-Sans J, Lleó A, Illán-Gala I, Clarimón J, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, Gelpi E, Sanchez-Valle R, Borrego-Ecija S, Matej R, Parobkova E, Nacmias B, Sorbi S, Bagnoli S, de Mendonça A, Ferreira C, Fraidakis MJ, Diehl-Schmid J, Alexopoulos P, Almeida MR, Santana I, Van Broeckhoven C, van der Zee J; BELNEU Consortium; EU EOD Consortium. Baradaran-Heravi Y, et al. Neurobiol Aging. 2018 Sep;69:293.e9-293.e11. doi: 10.1016/j.neurobiolaging.2018.05.005. Epub 2018 May 23. Neurobiol Aging. 2018. PMID: 29886022 Free article.
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Among authors: baradaran heravi y. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 Free PMC article.