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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.
Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes.
Setó-Salvia N, Clarimón J, Pagonabarraga J, Pascual-Sedano B, Campolongo A, Combarros O, Mateo JI, Regaña D, Martínez-Corral M, Marquié M, Alcolea D, Suárez-Calvet M, Molina-Porcel L, Dols O, Gómez-Isla T, Blesa R, Lleó A, Kulisevsky J. Setó-Salvia N, et al. Arch Neurol. 2011 Mar;68(3):359-64. doi: 10.1001/archneurol.2011.17. Arch Neurol. 2011. PMID: 21403021
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.
Corpora amylacea act as containers that remove waste products from the brain.
Riba M, Augé E, Campo-Sabariz J, Moral-Anter D, Molina-Porcel L, Ximelis T, Ferrer R, Martín-Venegas R, Pelegrí C, Vilaplana J. Riba M, et al. Proc Natl Acad Sci U S A. 2019 Dec 17;116(51):26038-26048. doi: 10.1073/pnas.1913741116. Epub 2019 Dec 3. Proc Natl Acad Sci U S A. 2019. PMID: 31796594 Free PMC article.
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.
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Dols-Icardo O, Montal V, Sirisi S, López-Pernas G, Cervera-Carles L, Querol-Vilaseca M, Muñoz L, Belbin O, Alcolea D, Molina-Porcel L, Pegueroles J, Turón-Sans J, Blesa R, Lleó A, Fortea J, Rojas-García R, Clarimón J. Dols-Icardo O, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Jul 15;7(5):e829. doi: 10.1212/NXI.0000000000000829. Print 2020 Sep. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32669313 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.
76 results