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Rapid-onset dystonia-parkinsonism.
Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO. Dobyns WB, et al. Among authors: ozelius lj. Neurology. 1993 Dec;43(12):2596-602. doi: 10.1212/wnl.43.12.2596. Neurology. 1993. PMID: 8255463
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A. Kramer PL, et al. Among authors: ozelius lj. Ann Neurol. 1999 Aug;46(2):176-82. doi: 10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co;2-2. Ann Neurol. 1999. PMID: 10443882
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Klein C, et al. Among authors: ozelius lj. Genet Test. 1999;3(4):323-8. doi: 10.1089/gte.1999.3.323. Genet Test. 1999. PMID: 10627938
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ. Brashear A, et al. Among authors: ozelius lj. Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4. Brain. 2007. PMID: 17282997
288 results