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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 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
The role of the DYT1 gene in secondary dystonia.
Bressman SB, de Leon D, Raymond D, Greene PE, Brin MF, Fahn S, Ozelius LJ, Breakefield XO, Kramer PL, Risch NJ. Bressman SB, et al. Adv Neurol. 1998;78:107-15. Adv Neurol. 1998. PMID: 9750907 No abstract available.
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
The DYT1 phenotype and guidelines for diagnostic testing.
Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ. Bressman SB, et al. Neurology. 2000 May 9;54(9):1746-52. doi: 10.1212/wnl.54.9.1746. Neurology. 2000. PMID: 10802779
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