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Items: 1 to 20 of 21

1.

Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.

Mao M, Alavi MV, Labelle-Dumais C, Gould DB.

Curr Top Membr. 2015;76:61-116. doi: 10.1016/bs.ctm.2015.09.002. Epub 2015 Oct 20. Review.

PMID:
26610912
2.

Monogenic causes of stroke: now and the future.

Tan RY, Markus HS.

J Neurol. 2015 Dec;262(12):2601-16. doi: 10.1007/s00415-015-7794-4. Epub 2015 Jun 3. Review.

PMID:
26037017
3.

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A.

J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7.

PMID:
25873210
4.

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.

Rannikmäe K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, Traylor M, Anderson CD, Battey TW, Radmanesh F, Deka R, Woo JG, Martin LJ, Jimenez-Conde J, Selim M, Brown DL, Silliman SL, Kidwell CS, Montaner J, Langefeld CD, Slowik A, Hansen BM, Lindgren AG, Meschia JF, Fornage M, Bis JC, Debette S, Ikram MA, Longstreth WT, Schmidt R, Zhang CR, Yang Q, Sharma P, Kittner SJ, Mitchell BD, Holliday EG, Levi CR, Attia J, Rothwell PM, Poole DL, Boncoraglio GB, Psaty BM, Malik R, Rost N, Worrall BB, Dichgans M, Van Agtmael T, Woo D, Markus HS, Seshadri S, Rosand J, Sudlow CL; METASTROKE Consortium; CHARGE WMH Group; ISGC ICH GWAS Study Collaboration; WMH in Ischemic Stroke GWAS Study Collaboration; International Stroke Genetics Consortium.

Neurology. 2015 Mar 3;84(9):918-26. doi: 10.1212/WNL.0000000000001309. Epub 2015 Feb 4.

5.

The small leucine-rich proteoglycan BGN accumulates in CADASIL and binds to NOTCH3.

Zhang X, Lee SJ, Young MF, Wang MM.

Transl Stroke Res. 2015 Apr;6(2):148-55. doi: 10.1007/s12975-014-0379-1. Epub 2015 Jan 13.

6.

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Renard D, Miné M, Pipiras E, Labauge P, Delahaye A, Benzacken B, Tournier-Lasserve E.

Neurology. 2014 Sep 9;83(11):1029-31. doi: 10.1212/WNL.0000000000000769. Epub 2014 Aug 6. No abstract available.

PMID:
25098541
7.

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.

Clin Genet. 2014 Nov;86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12.

8.
9.

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
10.

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.

11.

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.

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.

13.

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
14.

Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.

Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN.

Neuropathol Appl Neurobiol. 2011 Feb;37(1):94-113. doi: 10.1111/j.1365-2990.2010.01147.x. Review.

PMID:
21062344
15.

Hereditary and non-hereditary microangiopathies in the young. An up-date.

Ringelstein EB, Kleffner I, Dittrich R, Kuhlenbäumer G, Ritter MA.

J Neurol Sci. 2010 Dec 15;299(1-2):81-5. doi: 10.1016/j.jns.2010.08.037. Epub 2010 Sep 18. Review.

PMID:
20851424
16.

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.

17.

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
18.

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.

19.

COL4A1 mutation in preterm intraventricular hemorrhage.

Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR; Pacifier and Breastfeeding Trial Group.

J Pediatr. 2009 Nov;155(5):743-5. doi: 10.1016/j.jpeds.2009.04.014.

20.

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
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