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Items: 1 to 20 of 146

1.

Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.

Song X, Xue S, Zhao J, Wu J.

Int J Neurosci. 2017 Apr;127(4):350-355. doi: 10.3109/00207454.2016.1166107. Epub 2016 Apr 4.

PMID:
26981927
2.

Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke.

Dubuc V, Moore DF, Gioia LC, Saposnik G, Selchen D, Lanthier S.

J Stroke Cerebrovasc Dis. 2013 Nov;22(8):1288-92. doi: 10.1016/j.jstrokecerebrovasdis.2012.10.005. Epub 2012 Nov 17.

PMID:
23168217
3.

Fabry's disease: a prospective multicenter cohort study in young adults with cryptogenic stroke.

Saposnik G, Lanthier S, Mamdani M, Thorpe KE, Melo M, Pope K, Selchen D, Moore DF; Canadian Stroke Consortium; Stroke Outcome Research Canada (SORCan) Working Group.

Int J Stroke. 2012 Apr;7(3):265-73. doi: 10.1111/j.1747-4949.2011.00734.x. Epub 2012 Jan 20.

PMID:
22264232
4.

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.

Baptista MV, Ferreira S, Pinho-E-Melo T, Carvalho M, Cruz VT, Carmona C, Silva FA, Tuna A, Rodrigues M, Ferreira C, Pinto AA, Leitão A, Gabriel JP, Calado S, Oliveira JP, Ferro JM; PORTuguese Young STROKE Investigators.

Stroke. 2010 Mar;41(3):431-6. doi: 10.1161/STROKEAHA.109.570499. Epub 2010 Jan 28.

PMID:
20110537
5.

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ.

Stroke. 2010 Jan;41(1):78-81. doi: 10.1161/STROKEAHA.109.558320. Epub 2009 Dec 10.

6.

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.

Reisin RC, Mazziotti J, Cejas LL, Zinnerman A, Bonardo P, Pardal MF, Martínez A, Riccio P, Ameriso S, Bendersky E, Nofal P, Cairola P, Jure L, Sotelo A, Rozenfeld P, Ceci R, Casas-Parera I, Sánchez-Luceros A; AISYF Investigators.

J Stroke Cerebrovasc Dis. 2018 Mar;27(3):575-582. doi: 10.1016/j.jstrokecerebrovasdis.2017.09.045. Epub 2017 Nov 11.

PMID:
29132836
7.

The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya.

Gündoğdu AA, Kotan D, Alemdar M.

J Stroke Cerebrovasc Dis. 2017 Jun;26(6):1334-1340. doi: 10.1016/j.jstrokecerebrovasdis.2017.02.004. Epub 2017 Mar 7.

PMID:
28283366
8.

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.

De Brabander I, Yperzeele L, Ceuterick-De Groote C, Brouns R, Baker R, Belachew S, Delbecq J, De Keulenaer G, Dethy S, Eyskens F, Fumal A, Hemelsoet D, Hughes D, Jeangette S, Nuytten D, Redondo P, Sadzot B, Sindic C, Sheorajpanday R, Thijs V, Van Broeckhoven C, De Deyn PP.

Clin Neurol Neurosurg. 2013 Jul;115(7):1088-93. doi: 10.1016/j.clineuro.2012.11.003. Epub 2012 Dec 4.

PMID:
23219219
9.

Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.

Nagamatsu K, Sekijima Y, Nakamura K, Nakamura K, Hattori K, Ota M, Shimizu Y, Endo F, Ikeda SI.

J Hum Genet. 2017 Jul;62(7):665-670. doi: 10.1038/jhg.2017.31. Epub 2017 Mar 9.

PMID:
28275245
10.

Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.

Kinoshita N, Hosomi N, Matsushima H, Nakamori M, Yagita Y, Yamawaki T, Torii T, Kitamura T, Sueda Y, Shimomura R, Araki M, Nezu T, Aoki S, Ishii S, Maruyama H, Matsumoto M, Maruyama H.

J Stroke Cerebrovasc Dis. 2018 Dec;27(12):3563-3569. doi: 10.1016/j.jstrokecerebrovasdis.2018.08.025. Epub 2018 Sep 7.

PMID:
30201457
11.

An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.

Zeevi DA, Hakam-Spector E, Herskovitz Y, Beeri R, Elstein D, Altarescu G.

Gene. 2014 Oct 10;549(2):275-9. doi: 10.1016/j.gene.2014.08.004. Epub 2014 Aug 4.

PMID:
25101867
12.

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.

Romani I, Borsini W, Nencini P, Morrone A, Ferri L, Frusconi S, Donadio VA, Liguori R, Donati MA, Falconi S, Pracucci G, Inzitari D.

J Stroke Cerebrovasc Dis. 2015 Nov;24(11):2588-95. doi: 10.1016/j.jstrokecerebrovasdis.2015.07.012. Epub 2015 Aug 19.

PMID:
26298600
13.

Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.

Schelleckes M, Lenders M, Guske K, Schmitz B, Tanislav C, Ständer S, Metze D, Katona I, Weis J, Brand SM, Duning T, Brand E.

Orphanet J Rare Dis. 2014 Nov 26;9:178. doi: 10.1186/s13023-014-0178-5.

14.

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.

Nakamura K, Sekijima Y, Nakamura K, Hattori K, Nagamatsu K, Shimizu Y, Yazaki M, Sakurai A, Endo F, Fukushima Y, Ikeda SI.

Eur J Neurol. 2014;21(1):49-56. doi: 10.1111/ene.12214. Epub 2013 May 31.

PMID:
23724928
15.

[Prevalence of ischemic stroke in young adults and Fabry disease].

Song X, Xue S, Fan C, Li X, Wu J.

Zhonghua Yi Xue Za Zhi. 2014 Dec 23;94(47):3717-20. Chinese.

PMID:
25623092
16.

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Löhr M, Harzer K, Strauss U, Pahnke J, Grossmann A, Benecke R.

Lancet. 2005 Nov 19;366(9499):1794-6. Erratum in: Lancet. 2006 Dec 23;368(9554):2210.

PMID:
16298216
17.

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.

Rolfs A, Fazekas F, Grittner U, Dichgans M, Martus P, Holzhausen M, Böttcher T, Heuschmann PU, Tatlisumak T, Tanislav C, Jungehulsing GJ, Giese AK, Putaala J, Huber R, Bodechtel U, Lichy C, Enzinger C, Schmidt R, Hennerici MG, Kaps M, Kessler C, Lackner K, Paschke E, Meyer W, Mascher H, Riess O, Kolodny E, Norrving B; Stroke in Young Fabry Patients (sifap) Investigators.

Stroke. 2013 Feb;44(2):340-9. doi: 10.1161/STROKEAHA.112.663708. Epub 2013 Jan 10.

PMID:
23306324
18.

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, Redondo P, Hemelsoet D, Fumal A, Jeangette S, Verslegers W, Baker R, Hughes D, De Deyn PP; BeFaS Investigators.

Stroke. 2010 May;41(5):863-8. doi: 10.1161/STROKEAHA.110.579409. Epub 2010 Apr 1.

19.

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ.

J Med Genet. 2018 Apr;55(4):261-268. doi: 10.1136/jmedgenet-2017-105080. Epub 2018 Jan 12.

PMID:
29330335
20.

[Stroke and cornea verticillata revealing Fabry's disease in a female].

Fetter D, Bagan-Triquenot A, Guegan-Massardier E, Guyant-Marechal L, Tollard E, Bekri S, Hannequin D.

Rev Neurol (Paris). 2012 Feb;168(2):181-6. doi: 10.1016/j.neurol.2011.03.013. Epub 2011 Oct 26. French.

PMID:
22033111

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