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    Results: 8

    1.

    COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

    Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB.

    Ann Neurol. 2012 Apr;71(4):470-7. doi: 10.1002/ana.22682.

    PMID:
    22522439
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.

    Parkin JD, San Antonio JD, Pedchenko V, Hudson B, Jensen ST, Savige J.

    Hum Mutat. 2011 Feb;32(2):127-43. doi: 10.1002/humu.21401. Review.

    PMID:
    21280145
    [PubMed - indexed for MEDLINE]
    3.

    Glomerular basement membrane disorders in experimental models for renal diseases: impact on understanding pathogenesis and improving diagnosis.

    Kashtan CE, Segal Y.

    Contrib Nephrol. 2011;169:175-82. doi: 10.1159/000313956. Epub 2011 Jan 20.

    PMID:
    21252518
    [PubMed - indexed for MEDLINE]
    4.

    Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

    Vahedi K, Alamowitch S.

    Curr Opin Neurol. 2011 Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. Review.

    PMID:
    21157337
    [PubMed - indexed for MEDLINE]
    5.

    Genetic disorders of glomerular basement membranes.

    Kashtan CE, Segal Y.

    Nephron Clin Pract. 2011;118(1):c9-c18. doi: 10.1159/000320876. Epub 2010 Nov 11. Review.

    PMID:
    21071975
    [PubMed - indexed for MEDLINE]
    6.

    Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.

    Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P.

    Am J Med Genet A. 2010 Oct;152A(10):2550-5. doi: 10.1002/ajmg.a.33659.

    PMID:
    20818663
    [PubMed - indexed for MEDLINE]
    7.

    Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

    Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P.

    Neurology. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12.

    PMID:
    19949034
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

    Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P.

    N Engl J Med. 2007 Dec 27;357(26):2687-95.

    PMID:
    18160688
    [PubMed - indexed for MEDLINE]
    Free Article

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