Marchuk DA - Search Results

1

A second leaky splice-site mutation in the spastin gene.

Svenson IK, Ashley-Koch AE, Pericak-Vance MA, Marchuk DA. Svenson IK, et al. Among authors: marchuk da. Am J Hum Genet. 2001 Dec;69(6):1407-9. doi: 10.1086/324593. Am J Hum Genet. 2001. PMID: 11704932 Free PMC article. No abstract available.

2

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA. Svenson IK, et al. Among authors: marchuk da. Am J Hum Genet. 2001 May;68(5):1077-85. doi: 10.1086/320111. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11309678 Free PMC article.

3

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.

Damji KF, Gallione CJ, Allingham RR, Slotterbeck B, Guttmacher AE, Pasyk KA, Vance JM, Pericak-Vance MA, Speer MC, Marchuk DA. Damji KF, et al. Among authors: marchuk da. Hum Genet. 1998 Feb;102(2):207-12. doi: 10.1007/s004390050679. Hum Genet. 1998. PMID: 9521591 Free article.

4

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

Yip AG, Dürr A, Marchuk DA, Ashley-Koch A, Hentati A, Rubinsztein DC, Reid E. Yip AG, et al. Among authors: marchuk da. J Med Genet. 2003 Sep;40(9):e106. doi: 10.1136/jmg.40.9.e106. J Med Genet. 2003. PMID: 12960222 Free PMC article. No abstract available.

5

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Ashley-Koch A, Bonner ER, Gaskell PC, West SG, Tim R, Wolpert CM, Jones R, Farrell CD, Nance M, Svenson IK, Marchuk DA, Boustany RM, Vance JM, Scott WK, Pericak-Vance MA. Ashley-Koch A, et al. Among authors: marchuk da. Neurogenetics. 2001 Mar;3(2):91-7. doi: 10.1007/s100480000098. Neurogenetics. 2001. PMID: 11354831

6

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

McAllister KA, Lennon F, Bowles-Biesecker B, McKinnon WC, Helmbold EA, Markel DS, Jackson CE, Guttmacher AE, Pericak-Vance MA, Marchuk DA. McAllister KA, et al. Among authors: marchuk da. J Med Genet. 1994 Dec;31(12):927-32. doi: 10.1136/jmg.31.12.927. J Med Genet. 1994. PMID: 7891374 Free PMC article.

7

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA. Johnson DW, et al. Among authors: marchuk da. Nat Genet. 1996 Jun;13(2):189-95. doi: 10.1038/ng0696-189. Nat Genet. 1996. PMID: 8640225

8

Central nervous system serotonin function and cardiovascular responses to stress.

Williams RB, Marchuk DA, Gadde KM, Barefoot JC, Grichnik K, Helms MJ, Kuhn CM, Lewis JG, Schanberg SM, Stafford-Smith M, Suarez EC, Clary GL, Svenson IK, Siegler IC. Williams RB, et al. Among authors: marchuk da. Psychosom Med. 2001 Mar-Apr;63(2):300-5. doi: 10.1097/00006842-200103000-00016. Psychosom Med. 2001. PMID: 11292279 Clinical Trial.

9

An EcoRI RFLP in the 5' region of the human NF1 gene.

Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ. Reyniers E, et al. Among authors: marchuk da. Hum Genet. 1993 Dec;92(6):631. doi: 10.1007/BF00420953. Hum Genet. 1993. PMID: 7903272 Free article.

10

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. Berg JN, et al. Among authors: marchuk da. Am J Hum Genet. 1997 Jul;61(1):60-7. doi: 10.1086/513903. Am J Hum Genet. 1997. PMID: 9245985 Free PMC article.

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