Risch NJ - Search Results

1

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: risch nj. Nat Genet. 1997 Sep;17(1):40-8. doi: 10.1038/ng0997-40. Nat Genet. 1997. PMID: 9288096

2

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.

Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Risch NJ, et al. Am J Hum Genet. 2007 Jun;80(6):1188-93. doi: 10.1086/518427. Epub 2007 Apr 27. Am J Hum Genet. 2007. PMID: 17503336 Free PMC article.

3

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. Am J Hum Genet. 1992 Mar;50(3):619-28. Am J Hum Genet. 1992. PMID: 1347197 Free PMC article.

4

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. Neuron. 1989 May;2(5):1427-34. doi: 10.1016/0896-6273(89)90188-8. Neuron. 1989. PMID: 2576373

5

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.

Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S. Risch N, et al. Nat Genet. 1995 Feb;9(2):152-9. doi: 10.1038/ng0295-152. Nat Genet. 1995. PMID: 7719342

6

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.

7

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman A, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ. Klein C, et al. Among authors: risch nj. Hum Mol Genet. 1998 Jul;7(7):1133-6. doi: 10.1093/hmg/7.7.1133. Hum Mol Genet. 1998. PMID: 9618171

8

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.

Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Jacoby D, Penney J, Risch NJ, Fahn S, Gusella JF, Breakefield XO. Ozelius LJ, et al. Among authors: risch nj. Adv Neurol. 1998;78:93-105. Adv Neurol. 1998. PMID: 9750906 Review. No abstract available.

9

Search for a founder mutation in idiopathic focal dystonia from Northern Germany.

Klein C, Ozelius LJ, Hagenah J, Breakefield XO, Risch NJ, Vieregge P. Klein C, et al. Among authors: risch nj. Am J Hum Genet. 1998 Dec;63(6):1777-82. doi: 10.1086/302143. Am J Hum Genet. 1998. PMID: 9837831 Free PMC article.

10

Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.

Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB. Heiman GA, et al. Among authors: risch nj. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):361-4. doi: 10.1002/ajmg.b.30431. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17066475 Free PMC article.

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