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Results by year

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

Year Number of Results
1979 1
1981 1
1983 1
1984 1
1986 1
1987 3
1988 1
1989 2
1990 3
1991 1
1992 2
1993 5
1994 5
1995 7
1996 6
1997 3
1998 2
1999 3
2000 3
2001 3
2002 9
2003 2
2004 3
2005 6
2006 8
2007 6
2008 14
2009 12
2010 10
2011 14
2012 16
2013 11
2014 11
2015 14
2016 22
2017 19
2018 13
2019 12
2020 23
2021 17
2022 17
2023 12
2024 3

Text availability

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Article type

Publication date

PubMed for id: 2717

288 results

Results by year

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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.
288 results