Kramer PL - Search Results

1

Human gene for torsion dystonia located on chromosome 9q32-q34.

Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D, et al. Ozelius L, et al. Among authors: kramer pl. Neuron. 1989 May;2(5):1427-34. doi: 10.1016/0896-6273(89)90188-8. Neuron. 1989. PMID: 2576373

2

Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.

Schuback D, Kramer P, Ozelius L, Holmgren G, Forsgren L, Kyllerman M, Wahlström J, Craft CM, Nygaard T, Brin M, et al. Schuback D, et al. Hum Genet. 1991 Jul;87(3):311-6. doi: 10.1007/BF00200910. Hum Genet. 1991. PMID: 1677923

3

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.

Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, Rutter M, Risch N, Brin MF, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, McCormick MK, Fahn S, Buckler AJ, Gusella JF, Breakefield XO. Ozelius LJ, et al. Genome Res. 1997 May;7(5):483-94. doi: 10.1101/gr.7.5.483. Genome Res. 1997. PMID: 9149944 Free article.

4

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Klein C, et al. Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):5173-6. doi: 10.1073/pnas.96.9.5173. Proc Natl Acad Sci U S A. 1999. PMID: 10220438 Free PMC article.

5

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Leung JC, et al. Neurogenetics. 2001 Jul;3(3):133-43. doi: 10.1007/s100480100111. Neurogenetics. 2001. PMID: 11523564

6

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, et al. Ozelius LJ, et al. Among authors: kramer pl. Am J Hum Genet. 1992 Mar;50(3):619-28. Am J Hum Genet. 1992. PMID: 1347197 Free PMC article.

7

Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

Kwiatkowski DJ, Ozelius L, Kramer PL, Perman S, Schuback DE, Gusella JF, Fahn S, Breakefield XO. Kwiatkowski DJ, et al. Among authors: kramer pl. Am J Hum Genet. 1991 Aug;49(2):366-71. Am J Hum Genet. 1991. PMID: 1867195 Free PMC article.

8

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.

Kramer PL, de Leon D, Ozelius L, Risch N, Bressman SB, Brin MF, Schuback DE, Burke RE, Kwiatkowski DJ, Shale H, et al. Kramer PL, et al. Ann Neurol. 1990 Feb;27(2):114-20. doi: 10.1002/ana.410270203. Ann Neurol. 1990. PMID: 2317008

9

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, et al. Kramer PL, et al. Am J Hum Genet. 1994 Sep;55(3):468-75. Am J Hum Genet. 1994. PMID: 8079990 Free PMC article.

10

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. Ozelius LJ, et al. Among authors: kramer pl. Nat Genet. 1997 Sep;17(1):40-8. doi: 10.1038/ng0997-40. Nat Genet. 1997. PMID: 9288096

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