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Journal Abstract Search

288 related items for PubMed ID: 19184323

  • 1. Familial cerebral cavernous malformation: report of a further Italian family.
    Nannucci S, Pescini F, Poggesi A, Ciolli L, Patrosso MC, Marocchi A, Inzitari D, Penco S, Pantoni L.
    Neurol Sci; 2009 Apr; 30(2):143-7. PubMed ID: 19184323
    [Abstract] [Full Text] [Related]

  • 2. 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.
    J Mol Neurosci; 2015 Jul; 56(3):602-7. PubMed ID: 25869611
    [Abstract] [Full Text] [Related]

  • 3. 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.
    J Mol Neurosci; 2010 Oct; 42(2):235-42. PubMed ID: 20419355
    [Abstract] [Full Text] [Related]

  • 4. 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.
    Biomed Res Int; 2013 Oct; 2013():459253. PubMed ID: 24058906
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
    Galvão GDF, Trefilio LM, Salvio AL, da Silva EV, Alves-Leon SV, Fontes-Dantas FL, de Souza JM.
    J Stroke Cerebrovasc Dis; 2024 Nov; 33(11):107947. PubMed ID: 39181174
    [Abstract] [Full Text] [Related]

  • 7. 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.
    Am J Med Genet B Neuropsychiatr Genet; 2007 Jul 05; 144B(5):691-5. PubMed ID: 17440989
    [Abstract] [Full Text] [Related]

  • 8. 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.
    Brain Pathol; 2011 Mar 05; 21(2):215-24. PubMed ID: 21029238
    [Abstract] [Full Text] [Related]

  • 9. 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 13; 62(7):1213-5. PubMed ID: 15079030
    [Abstract] [Full Text] [Related]

  • 10. A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
    Li C, Liu P, Huang W, Wang H, Ma K, Zhuo L, Kang Y, He Q, Lin Y, Kang D, Lin F.
    Neurogenetics; 2023 Apr 13; 24(2):137-146. PubMed ID: 36892712
    [Abstract] [Full Text] [Related]

  • 11. PDCD10 gene mutations in multiple cerebral cavernous malformations.
    Cigoli MS, Avemaria F, De Benedetti S, Gesu GP, Accorsi LG, Parmigiani S, Corona MF, Capra V, Mosca A, Giovannini S, Notturno F, Ciccocioppo F, Volpi L, Estienne M, De Michele G, Antenora A, Bilo L, Tavoni A, Zamponi N, Alfei E, Baranello G, Riva D, Penco S.
    PLoS One; 2014 Apr 13; 9(10):e110438. PubMed ID: 25354366
    [Abstract] [Full Text] [Related]

  • 12. 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 13; 20(5):667-9. PubMed ID: 23485406
    [Abstract] [Full Text] [Related]

  • 13. Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.
    Riant F, Bergametti F, Ayrignac X, Boulday G, Tournier-Lasserve E.
    FEBS J; 2010 Mar 13; 277(5):1070-5. PubMed ID: 20096038
    [Abstract] [Full Text] [Related]

  • 14. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.
    Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA.
    Hum Mutat; 2006 Jan 13; 27(1):118. PubMed ID: 16329096
    [Abstract] [Full Text] [Related]

  • 15. 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 13; 61(2):221-226. PubMed ID: 28160210
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 334(1-2):97-101. PubMed ID: 24007869
    [Abstract] [Full Text] [Related]

  • 17. [Cerebral cavernous malformation--its genetic and biological background].
    Fujimura M, Tominaga T.
    Brain Nerve; 2008 Nov 15; 60(11):1271-4. PubMed ID: 19069160
    [Abstract] [Full Text] [Related]

  • 18. A Japanese pedigree of familial cerebral cavernous malformations--a case report.
    Imada Y, Yuki K, Migita K, Sadatomo T, Kuwabara M, Yamada T, Kurisu K.
    Hiroshima J Med Sci; 2014 Dec 15; 63(4):43-8. PubMed ID: 25707093
    [Abstract] [Full Text] [Related]

  • 19. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
    Cavé-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E.
    Eur J Hum Genet; 2002 Nov 15; 10(11):733-40. PubMed ID: 12404106
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 61(4):511-523. PubMed ID: 28255959
    [Abstract] [Full Text] [Related]

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