239 related articles for article (PubMed ID: 25101867)
1. 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; 549(2):275-9. PubMed ID: 25101867
[TBL] [Abstract][Full Text] [Related]
2. 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; 9():178. PubMed ID: 25423912
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23219219
[TBL] [Abstract][Full Text] [Related]
4. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic
Doheny D; Srinivasan R; Pagant S; Chen B; Yasuda M; Desnick RJ
J Med Genet; 2018 Apr; 55(4):261-268. PubMed ID: 29330335
[TBL] [Abstract][Full Text] [Related]
5. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
[TBL] [Abstract][Full Text] [Related]
6. Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.
Gervas-Arruga J; Cebolla JJ; Irun P; Perez-Lopez J; Plaza L; Roche JC; Capablo JL; Rodriguez-Rey JC; Pocovi M; Giraldo P
BMC Genet; 2015 Sep; 16():109. PubMed ID: 26334996
[TBL] [Abstract][Full Text] [Related]
7. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 23168217
[TBL] [Abstract][Full Text] [Related]
9. 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;
Stroke; 2010 Mar; 41(3):431-6. PubMed ID: 20110537
[TBL] [Abstract][Full Text] [Related]
10. Fabry disease in patients with end-stage renal failure: the potential benefits of screening.
Bekri S; Enica A; Ghafari T; Plaza G; Champenois I; Choukroun G; Unwin R; Jaeger P
Nephron Clin Pract; 2005; 101(1):c33-8. PubMed ID: 15886492
[TBL] [Abstract][Full Text] [Related]
11. A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.
Pisani A; Imbriaco M; Zizzo C; Albeggiani G; Colomba P; Alessandro R; Iemolo F; Duro G
BMC Cardiovasc Disord; 2012 Jun; 12():39. PubMed ID: 22682330
[TBL] [Abstract][Full Text] [Related]
12. 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
J Neurol Sci; 2024 Feb; 457():122905. PubMed ID: 38295534
[TBL] [Abstract][Full Text] [Related]
13. Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Filoni C; Caciotti A; Carraresi L; Donati MA; Mignani R; Parini R; Filocamo M; Soliani F; Simi L; Guerrini R; Zammarchi E; Morrone A
Eur J Hum Genet; 2008 Nov; 16(11):1311-7. PubMed ID: 18560446
[TBL] [Abstract][Full Text] [Related]
14. 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; 366(9499):1794-6. PubMed ID: 16298216
[TBL] [Abstract][Full Text] [Related]
15. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
[TBL] [Abstract][Full Text] [Related]
16. Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I; Souto-Rodriguez O; Fernandez-Mosquera L; San Millan B; Teijeira S; Fernandez-Martin J; Martinez-Sanchez F; Aldamiz-Echevarria LJ; Lopez-Rodriguez M; Navarro C; Ortolano S
Orphanet J Rare Dis; 2018 Apr; 13(1):52. PubMed ID: 29631605
[TBL] [Abstract][Full Text] [Related]
17. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira JP; Nowak A; Barbey F; Torres M; Nunes JP; Teixeira-E-Costa F; Carvalho F; Sampaio S; Tavares I; Pereira O; Soares AL; Carmona C; Cardoso MT; Jurca-Simina IE; Spada M; Ferreira S; Germain DP
Eur J Med Genet; 2020 Feb; 63(2):103703. PubMed ID: 31200018
[TBL] [Abstract][Full Text] [Related]
18. Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A; Petra R; Paulasová Schwabová J; Olšerová A; Škorňa M; Nevšímalová M; Šimůnek L; Herzig R; Fafejtová Š; Mikulenka P; Táboříková A; Neumann J; Brzezny R; Sobolová H; Bartoník J; Václavík D; Vachová M; Bechyně K; Havlíková H; Prax T; Šaňák D; Černíková I; Ondečková I; Procházka P; Rajner J; Škoda M; Novák J; Škoda O; Bar M; Mikulík R; Dostálová G; Linhart A;
PLoS One; 2021; 16(12):e0260601. PubMed ID: 34905550
[TBL] [Abstract][Full Text] [Related]
19. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH; Lee BH; Heo SH; Kim GH; Kim YM; Kim DS; Ko JM; Sohn YB; Hong YH; Lee DH; Kook H; Lim HH; Kim KH; Kim WS; Hong GR; Kim SH; Park SH; Kim CD; Kim SM; Seo JS; Yoo HW
Medicine (Baltimore); 2017 Jul; 96(29):e7387. PubMed ID: 28723748
[TBL] [Abstract][Full Text] [Related]
20. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Maier EM; Osterrieder S; Whybra C; Ries M; Gal A; Beck M; Roscher AA; Muntau AC
Acta Paediatr Suppl; 2006 Apr; 95(451):30-8. PubMed ID: 16720462
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
