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A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, Doheny D, Fahn S, Fink JS, Forsgren L, Friedman J, Frucht S, Harris J, Holmgren G, Kis B, Kurlan R, Kyllerman M, Lang AE, Leung J, Raymond D, Robishaw JD, Sanner G, Schwinger E, Tabamo RE, Tagliati M. Klein C, et al. Among authors: fahn s. Am J Hum Genet. 2000 Nov;67(5):1314-9. Epub 2000 Oct 5. Am J Hum Genet. 2000. PMID: 11022010 Free PMC article.
Secondary dystonia and the DYTI gene.
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. Among authors: fahn s. Neurology. 1997 Jun;48(6):1571-7. doi: 10.1212/wnl.48.6.1571. Neurology. 1997. PMID: 9191768
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: fahn s. Nat Genet. 1997 Sep;17(1):40-8. doi: 10.1038/ng0997-40. Nat Genet. 1997. PMID: 9288096
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin MF, Kapoor RP, Jones AC, Shen H, Fahn S, Risch NJ, Nygaard TG. Almasy L, et al. Among authors: fahn s. Ann Neurol. 1997 Oct;42(4):670-3. doi: 10.1002/ana.410420421. Ann Neurol. 1997. PMID: 9382482
Diagnostic criteria for dystonia in DYT1 families.
Bressman SB, Raymond D, Wendt K, Saunders-Pullman R, De Leon D, Fahn S, Ozelius L, Risch N. Bressman SB, et al. Among authors: fahn s. Neurology. 2002 Dec 10;59(11):1780-2. doi: 10.1212/01.wnl.0000035630.12515.e0. Neurology. 2002. PMID: 12473770 Clinical Trial.
609 results