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Year Number of Results
2003 1
2004 1
2007 6
2008 2
2010 1
2011 2
2012 2
2013 2
2014 3
2015 5
2016 2
2017 2
2019 12
2020 10
2021 14
2022 6
2023 7
2024 1

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72 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Impact of COVID-19 pandemic on mental health: An international study.
Gloster AT, Lamnisos D, Lubenko J, Presti G, Squatrito V, Constantinou M, Nicolaou C, Papacostas S, Aydın G, Chong YY, Chien WT, Cheng HY, Ruiz FJ, Garcia-Martin MB, Obando-Posada DP, Segura-Vargas MA, Vasiliou VS, McHugh L, Höfer S, Baban A, Dias Neto D, Nunes da Silva A, Monestès JL, Alvarez-Galvez J, Paez-Blarrina M, Montesinos F, Valdivia-Salas S, Ori D, Kleszcz B, Lappalainen R, Ivanović I, Gosar D, Dionne F, Merwin RM, Kassianos AP, Karekla M. Gloster AT, et al. Among authors: papacostas s. PLoS One. 2020 Dec 31;15(12):e0244809. doi: 10.1371/journal.pone.0244809. eCollection 2020. PLoS One. 2020. PMID: 33382859 Free PMC article. Clinical Trial.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Neocleous V, Fanis P, Toumba M, Gorka B, Kousiappa I, Tanteles GA, Iasonides M, Nicolaides NC, Christou YP, Michailidou K, Nicolaou S, Papacostas SS, Christoforidis A, Kyriakou A, Vlachakis D, Skordis N, Phylactou LA. Neocleous V, et al. Among authors: papacostas ss. Front Endocrinol (Lausanne). 2021 Sep 24;12:745048. doi: 10.3389/fendo.2021.745048. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34630334 Free PMC article.
Corrigendum: Illness perceptions of COVID-19 in Europe: predictors, impacts and temporal evolution.
Dias Neto D, Nunes da Silva A, Roberto MS, Lubenko J, Constantinou M, Nicolaou C, Lamnisos D, Papacostas S, Höfer S, Presti G, Squatrito V, Vasiliou VS, McHugh L, Monestès JL, Baban A, Alvarez-Galvez J, Paez-Blarrina M, Montesinos F, Valdivia-Salas S, Ori D, Lappalainen R, Kleszcz B, Gloster A, Karekla M, Kassianos AP. Dias Neto D, et al. Among authors: papacostas s. Front Psychol. 2023 Jun 13;14:1227506. doi: 10.3389/fpsyg.2023.1227506. eCollection 2023. Front Psychol. 2023. PMID: 37384172 Free PMC article.
72 results