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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: bressman sb. Nat Genet. 1997 Sep;17(1):40-8. doi: 10.1038/ng0997-40. Nat Genet. 1997. PMID: 9288096
Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.
Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman JM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, et al. Kwiatkowski DJ, et al. Among authors: bressman sb. Am J Hum Genet. 1991 Jan;48(1):121-8. Am J Hum Genet. 1991. PMID: 1985454 Free PMC article.
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: bressman sb. Neuron. 1989 May;2(5):1427-34. doi: 10.1016/0896-6273(89)90188-8. Neuron. 1989. PMID: 2576373
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. Among authors: bressman sb. Genome Res. 1997 May;7(5):483-94. doi: 10.1101/gr.7.5.483. Genome Res. 1997. PMID: 9149944 Free article.
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO. Ozelius LJ, et al. Among authors: bressman sb. Genomics. 1999 Dec 15;62(3):377-84. doi: 10.1006/geno.1999.6039. Genomics. 1999. PMID: 10644435
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. Among authors: bressman sb. Neurogenetics. 2001 Jul;3(3):133-43. doi: 10.1007/s100480100111. Neurogenetics. 2001. PMID: 11523564
159 results