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Journal Abstract Search

335 related items for PubMed ID: 24034083

  • 1.
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  • 2. A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family.
    Zhao Y, Xie L, Li P, Song J, Qu T, Fan W, Chen H, Chen D, Lu D, Zhou L, Mao Y.
    J Clin Neurosci; 2011 Jan; 18(1):61-5. PubMed ID: 20884211
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  • 3. 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
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  • 4. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
    Denier C, Labauge P, Brunereau L, Cavé-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E, Sociéte Française de Neurochirgurgie, Sociéte de Neurochirurgie de Langue Française.
    Ann Neurol; 2004 Feb; 55(2):213-20. PubMed ID: 14755725
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  • 6. 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
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  • 8. 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
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  • 10. 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 15; 61(2):221-226. PubMed ID: 28160210
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  • 11. C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
    Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA.
    Eur J Med Genet; 2009 Feb 15; 52(5):344-8. PubMed ID: 19454328
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  • 13. 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.
    Hum Mutat; 2008 May 15; 29(5):709-17. PubMed ID: 18300272
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  • 14. 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 15; 36(4):872-4. PubMed ID: 15718512
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  • 16. Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation.
    Lehnhardt FG, von Smekal U, Rückriem B, Stenzel W, Neveling M, Heiss WD, Jacobs AH.
    Arch Neurol; 2005 Apr 15; 62(4):653-8. PubMed ID: 15824268
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  • 18. Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations.
    Mao CY, Yang J, Zhang SY, Luo HY, Song B, Liu YT, Wu J, Sun SL, Yang ZH, Du P, Wang YH, Shi CH, Xu YM.
    Int J Neurosci; 2016 Dec 15; 126(12):1071-6. PubMed ID: 26643368
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  • 20. CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.
    Gaetzner S, Stahl S, Sürücü O, Schaafhausen A, Halliger-Keller B, Bertalanffy H, Sure U, Felbor U.
    Neurosurg Rev; 2007 Apr 15; 30(2):155-9; discussion 159-60. PubMed ID: 17187287
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