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

Year Number of Results
2000 1
2001 1
2002 6
2003 2
2004 1
2005 2
2006 4
2007 4
2008 13
2009 11
2010 10
2011 12
2012 14
2013 6
2014 10
2015 13
2016 17
2017 18
2018 12
2019 9
2020 17
2021 9
2022 4
2023 9
2024 2

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PubMed (GeneRIF) for id: 2717

177 results

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Page 1
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I, Sarti C, Nencini P, Pracucci G, Zedde M, Cianci V, Nucera A, Moller J, Orsucci D, Toni D, Palumbo P, Casella C, Pinto V, Barbarini L, Bella R, Scoditti U, Ragno M, Mezzapesa DM, Tassi R, Volpi G, Diomedi M, Bigliardi G, Cavallini AM, Chiti A, Ricci S, Cecconi E, Linoli G, Sacco S, Rasura M, Giordano A, Bonetti B, Melis M, Cariddi LP, Dossi RC, Grisendi I, Aguglia U, Di Ruzza MR, Melis M, Sbardella E, Vista M, Valenti R, Musolino RF, Passarella B, Direnzo V, Pennisi G, Genovese A, Di Marzio F, Sgobio R, Acampa M, Nannucci S, Dagostino F, Dell'Acqua ML, Cuzzoni MG, Picchioni A, Calchetti B, Notturno F, Di Lisi F, Forlivesi S, Delodovici ML, Buechner SC, Biagini S, Accavone D, Manna R, Morrone A, Inzitari D. Romani I, et al. J Neurol Sci. 2024 Feb 15;457:122905. doi: 10.1016/j.jns.2024.122905. Epub 2024 Jan 24. J Neurol Sci. 2024. PMID: 38295534 Free article.
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K. Okada E, et al. Clin Exp Nephrol. 2023 Sep;27(9):737-746. doi: 10.1007/s10157-023-02361-x. Epub 2023 May 31. Clin Exp Nephrol. 2023. PMID: 37254000 Free PMC article.
D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.
Palaiodimou L, Stefanou MI, Bakola E, Papadopoulou M, Kokotis P, Vrettou AR, Kapsia E, Petras D, Anastasakis A, Xifaras N, Karachaliou E, Touloumi G, Vlachopoulos C, Boletis IN, Giannopoulos S, Tsivgoulis G, Zompola C. Palaiodimou L, et al. Neurology. 2022 Nov 8;99(19):e2188-e2200. doi: 10.1212/WNL.0000000000201102. Neurology. 2022. PMID: 36344272
177 results