Similar articles for PMID: 23000020

Year	Number of Results
2002	1
2003	2
2004	3
2005	4
2006	7
2007	9
2008	6
2009	8
2010	8
2011	4
2012	3
2013	9
2014	6
2015	8
2016	9
2017	14
2018	5
2019	3
2020	10
2021	6
2022	4
2023	3
2024	1

1

Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation?

D'Angelo R, Scimone C, Calabrò M, Schettino C, Fratta M, Sidoti A. D'Angelo R, et al. Gene. 2013 Apr 25;519(1):202-7. doi: 10.1016/j.gene.2012.09.045. Epub 2012 Sep 19. Gene. 2013. PMID: 23000020

2

Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

Pileggi S, Buscone S, Ricci C, Patrosso MC, Marocchi A, Brunori P, Battistini S, Penco S. Pileggi S, et al. J Mol Neurosci. 2010 Oct;42(2):235-42. doi: 10.1007/s12031-010-9360-y. Epub 2010 Apr 24. J Mol Neurosci. 2010. PMID: 20419355

3

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U. Stahl S, et al. Hum Mutat. 2008 May;29(5):709-17. doi: 10.1002/humu.20712. Hum Mutat. 2008. PMID: 18300272

4

Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.

D'Angelo R, Marini V, Rinaldi C, Origone P, Dorcaratto A, Avolio M, Goitre L, Forni M, Capra V, Alafaci C, Mareni C, Garrè C, Bramanti P, Sidoti A, Retta SF, Amato A. D'Angelo R, et al. Brain Pathol. 2011 Mar;21(2):215-24. doi: 10.1111/j.1750-3639.2010.00441.x. Epub 2010 Oct 4. Brain Pathol. 2011. PMID: 21029238 Free PMC article.

5

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F. Gianfrancesco F, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Jul 5;144B(5):691-5. doi: 10.1002/ajmg.b.30381. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17440989

6

Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.

D'Angelo R, Alafaci C, Scimone C, Ruggeri A, Salpietro FM, Bramanti P, Tomasello F, Sidoti A. D'Angelo R, et al. Biomed Res Int. 2013;2013:459253. doi: 10.1155/2013/459253. Epub 2013 Aug 22. Biomed Res Int. 2013. PMID: 24058906 Free PMC article.

7

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.

Cigoli MS, De Benedetti S, Marocchi A, Bacigaluppi S, Primignani P, Gesu G, Citterio A, Tassi L, Mecarelli O, Pulitano P, Penco S. Cigoli MS, et al. J Mol Neurosci. 2015 Jul;56(3):602-7. doi: 10.1007/s12031-015-0555-0. Epub 2015 Apr 14. J Mol Neurosci. 2015. PMID: 25869611

8

Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.

Du Q, Shi Z, Chen H, Zhang Y, Wang J, Zhou H. Du Q, et al. J Mol Neurosci. 2019 Mar;67(3):467-471. doi: 10.1007/s12031-018-1254-4. Epub 2019 Jan 30. J Mol Neurosci. 2019. PMID: 30701383

9

CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.

D'Angelo R, Scimone C, Rinaldi C, Trimarchi G, Italiano D, Bramanti P, Amato A, Sidoti A. D'Angelo R, et al. Int J Mol Med. 2012 Jun;29(6):1113-20. doi: 10.3892/ijmm.2012.927. Epub 2012 Feb 28. Int J Mol Med. 2012. PMID: 22378217

10

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. Battistini S, et al. Arch Neurol. 2007 Jun;64(6):843-8. doi: 10.1001/archneur.64.6.843. Arch Neurol. 2007. PMID: 17562932

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