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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, … See abstract for full author list ➔ Chia R, et al. Among authors: fortea j. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Dols-Icardo O, García-Redondo A, Rojas-García R, Sánchez-Valle R, Noguera A, Gómez-Tortosa E, Pastor P, Hernández I, Esteban-Pérez J, Suárez-Calvet M, Antón-Aguirre S, Amer G, Ortega-Cubero S, Blesa R, Fortea J, Alcolea D, Capdevila A, Antonell A, Lladó A, Muñoz-Blanco JL, Mora JS, Galán-Dávila L, Rodríguez De Rivera FJ, Lleó A, Clarimón J. Dols-Icardo O, et al. Among authors: fortea j. Hum Mol Genet. 2014 Feb 1;23(3):749-54. doi: 10.1093/hmg/ddt460. Epub 2013 Sep 20. Hum Mol Genet. 2014. PMID: 24057670
Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
Rubio-Moscardo F, Setó-Salvia N, Pera M, Bosch-Morató M, Plata C, Belbin O, Gené G, Dols-Icardo O, Ingelsson M, Helisalmi S, Soininen H, Hiltunen M, Giedraitis V, Lannfelt L, Frank A, Bullido MJ, Combarros O, Sánchez-Juan P, Boada M, Tárraga L, Pastor P, Pérez-Tur J, Baquero M, Molinuevo JL, Sánchez-Valle R, Fuentes-Prior P, Fortea J, Blesa R, Muñoz FJ, Lleó A, Valverde MA, Clarimón J. Rubio-Moscardo F, et al. Among authors: fortea j. PLoS One. 2013 Sep 17;8(9):e74203. doi: 10.1371/journal.pone.0074203. eCollection 2013. PLoS One. 2013. PMID: 24069280 Free PMC article.
Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.
Suárez-Calvet M, Dols-Icardo O, Lladó A, Sánchez-Valle R, Hernández I, Amer G, Antón-Aguirre S, Alcolea D, Fortea J, Ferrer I, van der Zee J, Dillen L, Van Broeckhoven C, Molinuevo JL, Blesa R, Clarimón J, Lleó A. Suárez-Calvet M, et al. Among authors: fortea j. J Neurol Neurosurg Psychiatry. 2014 Jun;85(6):684-91. doi: 10.1136/jnnp-2013-305972. Epub 2013 Dec 4. J Neurol Neurosurg Psychiatry. 2014. PMID: 24309270
Cerebrospinal fluid β-amyloid and phospho-tau biomarker interactions affecting brain structure in preclinical Alzheimer disease.
Fortea J, Vilaplana E, Alcolea D, Carmona-Iragui M, Sánchez-Saudinos MB, Sala I, Antón-Aguirre S, González S, Medrano S, Pegueroles J, Morenas E, Clarimón J, Blesa R, Lleó A; Alzheimer's Disease Neuroimaging Initiative. Fortea J, et al. Ann Neurol. 2014 Aug;76(2):223-30. doi: 10.1002/ana.24186. Epub 2014 Jun 13. Ann Neurol. 2014. PMID: 24852682
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.
Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C. Kleinberger G, et al. Among authors: fortea j. Sci Transl Med. 2014 Jul 2;6(243):243ra86. doi: 10.1126/scitranslmed.3009093. Sci Transl Med. 2014. PMID: 24990881
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.
Thelen M, Razquin C, Hernández I, Gorostidi A, Sánchez-Valle R, Ortega-Cubero S, Wolfsgruber S, Drichel D, Fliessbach K, Duenkel T, Damian M, Heilmann S, Slotosch A, Lennarz M, Seijo-Martínez M, Rene R, Kornhuber J, Peters O, Luckhaus C, Jahn H, Hüll M, Rüther E, Wiltfang J, Lorenzo E, Gascon J, Lleó A, Lladó A, Campdelacreu J, Moreno F, Ahmadzadehfar H; Dementia Genetics Spanish Consortium (DEGESCO); Fortea J, Indakoetxea B, Heneka MT, Wetter A, Pastor MA, Riverol M, Becker T, Frölich L, Tárraga L, Boada M, Wagner M, Jessen F, Maier W, Clarimón J, López de Munain A, Ruiz A, Pastor P, Ramirez A. Thelen M, et al. Among authors: fortea j. Neurobiol Aging. 2014 Nov;35(11):2657.e13-2657.e19. doi: 10.1016/j.neurobiolaging.2014.06.018. Epub 2014 Jun 20. Neurobiol Aging. 2014. PMID: 25042114
Early Cerebellar Hypometabolism in Patients With Frontotemporal Dementia Carrying the C9orf72 Expansion.
Suárez-Calvet M, Camacho V, Gómez-Ansón B, Antón S, Vives-Gilabert Y, Dols-Icardo O, Clarimón J, Alcolea D, Blesa R, Fortea J, Lleó A. Suárez-Calvet M, et al. Among authors: fortea j. Alzheimer Dis Assoc Disord. 2015 Oct-Dec;29(4):353-6. doi: 10.1097/WAD.0000000000000056. Alzheimer Dis Assoc Disord. 2015. PMID: 25203513 No abstract available.
378 results