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Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.
Dols-Icardo O, García-Redondo A, Rojas-García R, Borrego-Hernández D, Illán-Gala I, Muñoz-Blanco JL, Rábano A, Cervera-Carles L, Juárez-Rufián A, Spataro N, De Luna N, Galán L, Cortes-Vicente E, Fortea J, Blesa R, Grau-Rivera O, Lleó A, Esteban-Pérez J, Gelpi E, Clarimón J. Dols-Icardo O, et al. Among authors: gelpi e. J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):162-168. doi: 10.1136/jnnp-2017-316820. Epub 2017 Sep 9. J Neurol Neurosurg Psychiatry. 2018. PMID: 28889094
Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusions.
Gelpi E, Lladó A, Clarimón J, Rey MJ, Rivera RM, Ezquerra M, Antonell A, Navarro-Otano J, Ribalta T, Piñol-Ripoll G, Pérez A, Valldeoriola F, Ferrer I. Gelpi E, et al. J Neuropathol Exp Neurol. 2012 Sep;71(9):795-805. doi: 10.1097/NEN.0b013e318266efb1. J Neuropathol Exp Neurol. 2012. PMID: 22892522
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
Pera M, Alcolea D, Sánchez-Valle R, Guardia-Laguarta C, Colom-Cadena M, Badiola N, Suárez-Calvet M, Lladó A, Barrera-Ocampo AA, Sepulveda-Falla D, Blesa R, Molinuevo JL, Clarimón J, Ferrer I, Gelpi E, Lleó A. Pera M, et al. Among authors: gelpi e. Acta Neuropathol. 2013 Feb;125(2):201-13. doi: 10.1007/s00401-012-1062-9. Epub 2012 Dec 6. Acta Neuropathol. 2013. PMID: 23224319 Free PMC article.
Large APP locus duplication in a sporadic case of cerebral haemorrhage.
Lladó A, Grau-Rivera O, Sánchez-Valle R, Balasa M, Obach V, Amaro S, Rey MJ, Molinuevo JL, Gelpi E, Antonell A. Lladó A, et al. Among authors: gelpi e. Neurogenetics. 2014 May;15(2):145-9. doi: 10.1007/s10048-014-0395-z. Epub 2014 Apr 2. Neurogenetics. 2014. PMID: 24691562
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matěj R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernández I, Boada M, Ruiz A, de Mendonça A, Miltenberger-Miltényi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schöls L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimón J, Lleó A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Ströbel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C. van der Zee J, et al. Among authors: gelpi e. Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5. Acta Neuropathol. 2014. PMID: 24899140 Free PMC article.
Diagnostic accuracy of behavioral variant frontotemporal dementia consortium criteria (FTDC) in a clinicopathological cohort.
Balasa M, Gelpi E, Martín I, Antonell A, Rey MJ, Grau-Rivera O, Molinuevo JL, Sánchez-Valle R, Lladó A; Catalan collaborative Study Group for FTLD. Balasa M, et al. Among authors: gelpi e. Neuropathol Appl Neurobiol. 2015 Dec;41(7):882-92. doi: 10.1111/nan.12194. Epub 2015 May 2. Neuropathol Appl Neurobiol. 2015. PMID: 25381753
496 results