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Page 1
Galectin-3 is upregulated in frontotemporal dementia patients with subtype specificity.
Borrego-Écija S, Pérez-Millan A, Antonell A, Fort-Aznar L, Kaya-Tilki E, León-Halcón A, Lladó A, Molina-Porcel L, Balasa M, Juncà-Parella J, Vitorica J, Venero JL, Deierborg T, Boza-Serrano A, Sánchez-Valle R. Borrego-Écija S, et al. Alzheimers Dement. 2024 Mar;20(3):1515-1526. doi: 10.1002/alz.13536. Epub 2023 Nov 29. Alzheimers Dement. 2024. PMID: 38018380 Free PMC article.
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Borrego-Écija S, Cortés-Vicente E, Cervera-Carles L, Clarimón J, Gámez J, Batlle J, Ricken G, Molina-Porcel L, Aldecoa I, Sánchez-Valle R, Rojas-García R, Gelpi E. Borrego-Écija S, et al. Neuropathol Appl Neurobiol. 2019 Jun;45(4):421-426. doi: 10.1111/nan.12527. Epub 2018 Nov 20. Neuropathol Appl Neurobiol. 2019. PMID: 30375034 Free PMC article. Review. No abstract available.
Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation.
Daude N, Kim C, Kang SG, Eskandari-Sedighi G, Haldiman T, Yang J, Fleck SC, Gomez-Cardona E, Han ZZ, Borrego-Ecija S, Wohlgemuth S, Julien O, Wille H, Molina-Porcel L, Gelpi E, Safar JG, Westaway D. Daude N, et al. Acta Neuropathol. 2020 Jun;139(6):1045-1070. doi: 10.1007/s00401-020-02148-4. Epub 2020 Mar 26. Acta Neuropathol. 2020. PMID: 32219515 Free PMC article.
Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants.
Borrego-Écija S, Turon-Sans J, Ximelis T, Aldecoa I, Molina-Porcel L, Povedano M, Rubio MA, Gámez J, Cano A, Paré-Curell M, Bajo L, Sotoca J, Clarimón J, Balasa M, Antonell A, Lladó A, Sánchez-Valle R, Rojas-García R, Gelpi E. Borrego-Écija S, et al. Brain Pathol. 2021 May;31(3):e12942. doi: 10.1111/bpa.12942. Epub 2021 Feb 12. Brain Pathol. 2021. PMID: 33576076 Free PMC article.
Atypical astroglial pTDP-43 pathology in astroglial predominant tauopathy.
Gelpi E, Aldecoa I, Lopez-Villegas D, Abellan-Vidal MT, Mercadel-Fañanas P, Fortea J, Ribosa R, Morenas E, Gomez-Anson B, Molina-Porcel L, Ximelis T, Borrego S, Antonell A, Rovelet-Lecrux A, Klotz S, Andres-Benito P, Sanchez-Valle R, Ferrer I. Gelpi E, et al. Neuropathol Appl Neurobiol. 2021 Dec;47(7):1109-1113. doi: 10.1111/nan.12707. Epub 2021 Apr 2. Neuropathol Appl Neurobiol. 2021. PMID: 33730418 Free PMC article.
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grün… See abstract for full author list ➔ de Rojas I, et al. Nat Commun. 2021 Jun 7;12(1):3417. doi: 10.1038/s41467-021-22491-8. Nat Commun. 2021. PMID: 34099642 Free PMC article.
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T, Marín-Moreno A, Espinosa JC, Eraña H, Charco JM, Hernández I, Riveira C, Alcolea D, González-Roca E, Aldecoa I, Molina-Porcel L, Parchi P, Rossi M, Castilla J, Ruiz-García R, Gelpi E, Torres JM, Sánchez-Valle R. Ximelis T, et al. Alzheimers Res Ther. 2021 Oct 18;13(1):176. doi: 10.1186/s13195-021-00912-6. Alzheimers Res Ther. 2021. PMID: 34663460 Free PMC article.
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. Brain. 2021 Oct 22;144(9):2798-2811. doi: 10.1093/brain/awab171. Brain. 2021. PMID: 34687211
76 results