118 related articles for article (PubMed ID: 32524545)
1. Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity.
Choquet H; Kim H
Methods Mol Biol; 2020; 2152():77-84. PubMed ID: 32524545
[TBL] [Abstract][Full Text] [Related]
2. Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity.
Choquet H; Pawlikowska L; Nelson J; McCulloch CE; Akers A; Baca B; Khan Y; Hart B; Morrison L; Kim H;
Cerebrovasc Dis; 2014; 38(6):433-40. PubMed ID: 25472749
[TBL] [Abstract][Full Text] [Related]
3. Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1.
Choquet H; Trapani E; Goitre L; Trabalzini L; Akers A; Fontanella M; Hart BL; Morrison LA; Pawlikowska L; Kim H; Retta SF
Free Radic Biol Med; 2016 Mar; 92():100-109. PubMed ID: 26795600
[TBL] [Abstract][Full Text] [Related]
4. Association of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation.
Choquet H; Nelson J; Pawlikowska L; McCulloch CE; Akers A; Baca B; Khan Y; Hart B; Morrison L; Kim H
Cerebrovasc Dis; 2014; 37(1):57-63. PubMed ID: 24401931
[TBL] [Abstract][Full Text] [Related]
5. Polymorphisms in genes related to oxidative stress and inflammation: Emerging links with the pathogenesis and severity of Cerebral Cavernous Malformation disease.
Perrelli A; Retta SF
Free Radic Biol Med; 2021 Aug; 172():403-417. PubMed ID: 34175437
[TBL] [Abstract][Full Text] [Related]
6. Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.
Fontes-Dantas FL; da Fontoura Galvão G; Veloso da Silva E; Alves-Leon S; Cecília da Silva Rêgo C; Garcia DG; Marques SA; Blanco Martinez AM; Reis da Silva M; Marcondes de Souza J
World Neurosurg; 2020 Jun; 138():535-540.e8. PubMed ID: 32113992
[TBL] [Abstract][Full Text] [Related]
7. A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.
Yang C; Nicholas VH; Zhao J; Wu B; Zhong H; Li Y; Xu Y
J Mol Neurosci; 2017 Apr; 61(4):511-523. PubMed ID: 28255959
[TBL] [Abstract][Full Text] [Related]
8. From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease.
Retta SF; Perrelli A; Trabalzini L; Finetti F
Methods Mol Biol; 2020; 2152():3-25. PubMed ID: 32524540
[TBL] [Abstract][Full Text] [Related]
9. Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.
Gault J; Sain S; Hu LJ; Awad IA
Neurosurgery; 2006 Dec; 59(6):1278-84; discussion 1284-5. PubMed ID: 17277691
[TBL] [Abstract][Full Text] [Related]
10. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.
Verlaan DJ; Laurent SB; Sure U; Bertalanffy H; Andermann E; Andermann F; Rouleau GA; Siegel AM
Neurology; 2004 Apr; 62(7):1213-5. PubMed ID: 15079030
[TBL] [Abstract][Full Text] [Related]
11. A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.
Wang H; Pan Y; Zhang Z; Li X; Xu Z; Suo Y; Li W; Wang Y
J Mol Neurosci; 2017 Feb; 61(2):221-226. PubMed ID: 28160210
[TBL] [Abstract][Full Text] [Related]
12. Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
Haghighi A; Fathi D; Shahbazi M; Motahari MM; Friedman B
J Neurol Sci; 2013 Nov; 334(1-2):97-101. PubMed ID: 24007869
[TBL] [Abstract][Full Text] [Related]
13. High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.
Rath M; Jenssen SE; Schwefel K; Spiegler S; Kleimeier D; Sperling C; Kaderali L; Felbor U
Eur J Med Genet; 2017 Sep; 60(9):479-484. PubMed ID: 28645800
[TBL] [Abstract][Full Text] [Related]
14. Increased number of white matter lesions in patients with familial cerebral cavernous malformations.
Golden MJ; Morrison LA; Kim H; Hart BL
AJNR Am J Neuroradiol; 2015 May; 36(5):899-903. PubMed ID: 25556204
[TBL] [Abstract][Full Text] [Related]
15. Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.
Battistini S; Rocchi R; Cerase A; Citterio A; Tassi L; Lando G; Patrosso MC; Galli R; Brunori P; Sgrò DL; Pitillo G; Lo Russo G; Marocchi A; Penco S
Arch Neurol; 2007 Jun; 64(6):843-8. PubMed ID: 17562932
[TBL] [Abstract][Full Text] [Related]
16. Cerebral cavernous malformation: new molecular and clinical insights.
Revencu N; Vikkula M
J Med Genet; 2006 Sep; 43(9):716-21. PubMed ID: 16571644
[TBL] [Abstract][Full Text] [Related]
17. Genomic causes of multiple cerebral cavernous malformations in a Japanese population.
Tsutsumi S; Ogino I; Miyajima M; Ikeda T; Shindo N; Yasumoto Y; Ito M; Arai H
J Clin Neurosci; 2013 May; 20(5):667-9. PubMed ID: 23485406
[TBL] [Abstract][Full Text] [Related]
18. Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
Yang C; Zhao J; Wu B; Zhong H; Li Y; Xu Y
J Mol Neurosci; 2017 Jan; 61(1):8-15. PubMed ID: 27649701
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.
Marini V; Ferrera L; Dorcaratto A; Viale G; Origone P; Mareni C; Garrè C
J Neurol Sci; 2003 Aug; 212(1-2):75-8. PubMed ID: 12810002
[TBL] [Abstract][Full Text] [Related]
20. Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.
Gault J; Shenkar R; Recksiek P; Awad IA
Stroke; 2005 Apr; 36(4):872-4. PubMed ID: 15718512
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]