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161 results
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Genetic abnormalities in hereditary hemorrhagic telangiectasia.
Marchuk DA. Marchuk DA. Curr Opin Hematol. 1998 Sep;5(5):332-8. doi: 10.1097/00062752-199809000-00005. Curr Opin Hematol. 1998. PMID: 9776212 Review.
Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.
Du F, Ozdowski EF, Kotowski IK, Marchuk DA, Sherwood NT. Du F, et al. Among authors: marchuk da. Hum Mol Genet. 2010 May 15;19(10):1883-96. doi: 10.1093/hmg/ddq064. Epub 2010 Feb 13. Hum Mol Genet. 2010. PMID: 20154342 Free PMC article.
ADAM12: a genetic modifier of preclinical peripheral arterial disease.
Dokun AO, Chen L, Okutsu M, Farber CR, Hazarika S, Jones WS, Craig D, Marchuk DA, Lye RJ, Shah SH, Annex BH. Dokun AO, et al. Among authors: marchuk da. Am J Physiol Heart Circ Physiol. 2015 Sep;309(5):H790-803. doi: 10.1152/ajpheart.00803.2014. Epub 2015 Jul 10. Am J Physiol Heart Circ Physiol. 2015. PMID: 26163448 Free PMC article.
Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
McDonald DA, Shi C, Shenkar R, Gallione CJ, Akers AL, Li S, De Castro N, Berg MJ, Corcoran DL, Awad IA, Marchuk DA. McDonald DA, et al. Among authors: marchuk da. Hum Mol Genet. 2014 Aug 15;23(16):4357-70. doi: 10.1093/hmg/ddu153. Epub 2014 Apr 3. Hum Mol Genet. 2014. PMID: 24698976 Free PMC article.
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.
Svenson IK, Kloos MT, Jacon A, Gallione C, Horton AC, Pericak-Vance MA, Ehlers MD, Marchuk DA. Svenson IK, et al. Among authors: marchuk da. Neurogenetics. 2005 Sep;6(3):135-41. doi: 10.1007/s10048-005-0219-2. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 15891913
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
Svenson IK, Kloos MT, Gaskell PC, Nance MA, Garbern JY, Hisanaga S, Pericak-Vance MA, Ashley-Koch AE, Marchuk DA. Svenson IK, et al. Among authors: marchuk da. Neurogenetics. 2004 Sep;5(3):157-64. doi: 10.1007/s10048-004-0186-z. Epub 2004 Jul 10. Neurogenetics. 2004. PMID: 15248095
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Liquori CL, et al. Among authors: marchuk da. Am J Hum Genet. 2003 Dec;73(6):1459-64. doi: 10.1086/380314. Epub 2003 Nov 17. Am J Hum Genet. 2003. PMID: 14624391 Free PMC article.
Vascular morphogenesis: tales of two syndromes.
Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS. Marchuk DA, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R97-112. doi: 10.1093/hmg/ddg103. Hum Mol Genet. 2003. PMID: 12668602 Review.
A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.
Srinivasan S, Hanes MA, Dickens T, Porteous ME, Oh SP, Hale LP, Marchuk DA. Srinivasan S, et al. Among authors: marchuk da. Hum Mol Genet. 2003 Mar 1;12(5):473-82. doi: 10.1093/hmg/ddg050. Hum Mol Genet. 2003. PMID: 12588795
Genetics of cerebral cavernous malformations.
Plummer NW, Zawistowski JS, Marchuk DA. Plummer NW, et al. Among authors: marchuk da. Curr Neurol Neurosci Rep. 2005 Sep;5(5):391-6. doi: 10.1007/s11910-005-0063-7. Curr Neurol Neurosci Rep. 2005. PMID: 16131422 Review.
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