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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
2008 1
2010 1
2011 1
2013 2
2014 1
2015 2
2016 2
2017 5
2018 2
2019 2
2020 6
2021 3
2022 0
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22 results
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Page 1
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.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE. Schneider AL, et al. Among authors: spataro n. Epilepsia. 2021 Jan;62(1):e13-e21. doi: 10.1111/epi.16784. Epub 2020 Dec 6. Epilepsia. 2021. PMID: 33280099
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: spataro n. J Med Genet. 2021 Dec 15:jmedgenet-2021-107751. doi: 10.1136/jmedgenet-2021-107751. Online ahead of print. J Med Genet. 2021. PMID: 34930816 Free PMC article.
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
A pharmacogenetic study implicates NINJ2 in the response to Interferon-β in multiple sclerosis.
Peroni S, Sorosina M, Malhotra S, Clarelli F, Osiceanu AM, Ferrè L, Roostaei T, Rio J, Midaglia L, Villar LM, Álvarez-Cermeño JC, Guaschino C, Radaelli M, Citterio L, Lechner-Scott J, Spataro N, Navarro A, Martinelli V, Montalban X, Weiner HL, de Jager P, Comi G, Esposito F, Comabella M, Martinelli-Boneschi F. Peroni S, et al. Among authors: spataro n. Mult Scler. 2020 Aug;26(9):1074-1082. doi: 10.1177/1352458519851428. Epub 2019 Jun 21. Mult Scler. 2020. PMID: 31221001
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.
22 results