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Year Number of Results
1947 1
1948 6
1949 2
1950 2
1952 3
1953 2
1954 5
1955 3
1956 2
1957 1
1958 1
1960 1
1961 1
1980 1
1982 1
1987 1
1989 1
1994 3
1995 2
1996 1
1997 2
1998 1
2000 5
2001 2
2002 3
2003 1
2004 2
2005 4
2006 1
2007 6
2008 4
2009 5
2010 3
2011 5
2012 5
2013 5
2014 6
2015 5
2016 5
2017 2
2018 15
2019 14
2020 15
2021 14
2022 10
2023 9
2024 18

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193 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.
Idarubicin.
Crivellari D, Toffoli G, Lombardi D, Berretta M, Sorio R, Magri MD, Spazzapan S, Scuderi C, Veronesi A. Crivellari D, et al. Among authors: scuderi c. Tumori. 2002 Jan-Feb;88(1 Suppl 1):S73-4. doi: 10.1177/030089160208800122. Tumori. 2002. PMID: 11989932 No abstract available.
Principles of Astrogliopathology.
Verkhratsky A, Li B, Scuderi C, Parpura V. Verkhratsky A, et al. Among authors: scuderi c. Adv Neurobiol. 2021;26:55-73. doi: 10.1007/978-3-030-77375-5_3. Adv Neurobiol. 2021. PMID: 34888830 Free PMC article.
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.
Neuroglia in Psychiatric Disorders.
Scuderi C, Verkhratsky A, Parpura V, Li B. Scuderi C, et al. Adv Neurobiol. 2021;26:3-19. doi: 10.1007/978-3-030-77375-5_1. Adv Neurobiol. 2021. PMID: 34888828 Free PMC article.
The role of neuroglia in autism spectrum disorders.
Scuderi C, Verkhratsky A. Scuderi C, et al. Prog Mol Biol Transl Sci. 2020;173:301-330. doi: 10.1016/bs.pmbts.2020.04.011. Epub 2020 May 8. Prog Mol Biol Transl Sci. 2020. PMID: 32711814 Review.
193 results