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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: spataro n. 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
NLRP3 polymorphisms and response to interferon-beta in multiple sclerosis patients.
Malhotra S, Sorosina M, Río J, Peroni S, Midaglia L, Villar LM, Álvarez-Cermeño JC, Schroeder I, Esposito F, Clarelli F, Zettl UK, Lechner-Scott J, Spataro N, Navarro A, Comi G, Montalban X, Martinelli-Boneschi F, Comabella M. Malhotra S, et al. Among authors: spataro n. Mult Scler. 2018 Oct;24(11):1507-1510. doi: 10.1177/1352458517739137. Epub 2017 Nov 9. Mult Scler. 2018. PMID: 29117789 Free article.
Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.
Gil-Varea E, Spataro N, Villar LM, Tejeda-Velarde A, Midaglia L, Matesanz F, Malhotra S, Eixarch H, Patsopoulos N, Fernández Ó, Oliver-Martos B, Saiz A, Llufriu S, Ramió-Torrentà L, Quintana E, Izquierdo G, Alcina A, Bosch E, Navarro A, Montalban X, Comabella M. Gil-Varea E, et al. Among authors: spataro n. Hum Mutat. 2020 Jul;41(7):1308-1320. doi: 10.1002/humu.24016. Epub 2020 Apr 1. Hum Mutat. 2020. PMID: 32196808
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. Aguilera C, et al. Among authors: spataro n. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells.
Gil-Varea E, Fedetz M, Eixarch H, Spataro N, Villar LM, Urcelay E, Saiz A, Fernández Ó, Leyva L, Ramió-Torrentà L, Vandenbroeck K, Otaegui D, Castillo-Triviño T, Izquierdo G, Malhotra S, Bosch E, Navarro A, Alcina A, Montalban X, Matesanz F, Comabella M. Gil-Varea E, et al. Among authors: spataro n. J Clin Med. 2020 Feb 26;9(3):625. doi: 10.3390/jcm9030625. J Clin Med. 2020. PMID: 32110891 Free PMC article.
Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.
Engelken J, Espadas G, Mancuso FM, Bonet N, Scherr AL, Jímenez-Álvarez V, Codina-Solà M, Medina-Stacey D, Spataro N, Stoneking M, Calafell F, Sabidó E, Bosch E. Engelken J, et al. Among authors: spataro n. Mol Biol Evol. 2016 Mar;33(3):738-54. doi: 10.1093/molbev/msv267. Epub 2015 Nov 17. Mol Biol Evol. 2016. PMID: 26582562 Free PMC article.
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