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Results: 1 to 20 of 130

1.

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.

Vahedi K, Kubis N, Boukobza M, Arnoult M, Massin P, Tournier-Lasserve E, Bousser MG.

Stroke. 2007 May;38(5):1461-4. Epub 2007 Mar 22.

PMID:
17379824
[PubMed - indexed for MEDLINE]
Free Article
2.

Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG.

Neurology. 2007 Oct 16;69(16):1564-8.

PMID:
17938367
[PubMed - indexed for MEDLINE]
3.

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.

Lanfranconi S, Markus HS.

Stroke. 2010 Aug;41(8):e513-8. doi: 10.1161/STROKEAHA.110.581918. Epub 2010 Jun 17. Review.

PMID:
20558831
[PubMed - indexed for MEDLINE]
Free Article
4.

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

de Vries LS, Koopman C, Groenendaal F, Van Schooneveld M, Verheijen FW, Verbeek E, Witkamp TD, van der Worp HB, Mancini G.

Ann Neurol. 2009 Jan;65(1):12-8. doi: 10.1002/ana.21525.

PMID:
19194877
[PubMed - indexed for MEDLINE]
5.

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW.

N Engl J Med. 2006 Apr 6;354(14):1489-96.

PMID:
16598045
[PubMed - indexed for MEDLINE]
Free Article
6.

Childhood presentation of COL4A1 mutations.

Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.

Dev Med Child Neurol. 2012 Jun;54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Epub 2012 Jan 16. Review.

PMID:
22574627
[PubMed - indexed for MEDLINE]
7.

Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.

Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A.

Curr Med Chem. 2010;17(13):1317-24. Review.

PMID:
20166936
[PubMed - indexed for MEDLINE]
8.

Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.

Vermeulen RJ, Peeters-Scholte C, Van Vugt JJ, Barkhof F, Rizzu P, van der Schoor SR, van der Knaap MS.

Neuropediatrics. 2011 Feb;42(1):1-3. doi: 10.1055/s-0031-1275343. Epub 2011 Apr 15. Erratum in: Neuropediatrics. 2011 Apr;42(2):e1. Van Vught, J J M G [corrected to Van Vugt, J J M].

PMID:
21500141
[PubMed - indexed for MEDLINE]
9.

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
10.

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C.

Ann Neurol. 2007 Aug;62(2):177-84.

PMID:
17696175
[PubMed - indexed for MEDLINE]
11.

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

van der Knaap MS, Smit LM, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW, Imhof S, Heutink P.

Ann Neurol. 2006 Mar;59(3):504-11.

PMID:
16374828
[PubMed - indexed for MEDLINE]
12.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

PMID:
22333902
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.

J Med Genet. 2006 Jun;43(6):490-5. Epub 2005 Aug 17.

PMID:
16107487
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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]
15.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.

Science. 2005 May 20;308(5725):1167-71.

PMID:
15905400
[PubMed - indexed for MEDLINE]
Free Article
16.

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.

Gunda B, Mine M, Kovács T, Hornyák C, Bereczki D, Várallyay G, Rudas G, Audrezet MP, Tournier-Lasserve E.

J Neurol. 2014 Mar;261(3):500-3. doi: 10.1007/s00415-013-7224-4. Epub 2014 Jan 5.

PMID:
24390199
[PubMed - in process]
17.

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

Lemmens R, Maugeri A, Niessen HW, Goris A, Tousseyn T, Demaerel P, Corveleyn A, Robberecht W, van der Knaap MS, Thijs VN, Zwijnenburg PJ.

Hum Mol Genet. 2013 Jan 15;22(2):391-7. doi: 10.1093/hmg/dds436. Epub 2012 Oct 12.

PMID:
23065703
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

COL4A1-Related Disorders.

Plaisier E, Ronco P.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2009 Jun 25 [updated 2011 Mar 08].

PMID:
20301768
[PubMed]
Books & Documents
19.

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Değerliyurt A, Ceylaner G, Koçak H, Bilginer Gürbüz B, Cihan BS, Rizzu P, Ceylaner S.

Genet Couns. 2012;23(2):185-93.

PMID:
22876576
[PubMed - indexed for MEDLINE]
20.

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

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