Ozelius LJ - Search Results

1

Screening study of TUBB4A in isolated dystonia.

Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Vulinovic F, et al. Among authors: ozelius lj. Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10. Parkinsonism Relat Disord. 2017. PMID: 28655586 Free PMC article.

2

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: ozelius lj. Hum Mol Genet. 1998 Jul;7(7):1133-6. doi: 10.1093/hmg/7.7.1133. Hum Mol Genet. 1998. PMID: 9618171

3

Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.

Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ. Klein C, et al. Among authors: ozelius lj. Ann Neurol. 1998 Sep;44(3):394-8. doi: 10.1002/ana.410440318. Ann Neurol. 1998. PMID: 9749609

4

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: ozelius lj. Am J Hum Genet. 1998 Dec;63(6):1777-82. doi: 10.1086/302143. Am J Hum Genet. 1998. PMID: 9837831 Free PMC article.

5

Genetic analysis of three patients with an 18p- syndrome and dystonia.

Klein C, Page CE, LeWitt P, Gordon MF, de Leon D, Awaad Y, Breakefield XO, Brin MF, Ozelius LJ. Klein C, et al. Among authors: ozelius lj. Neurology. 1999 Feb;52(3):649-51. doi: 10.1212/wnl.52.3.649. Neurology. 1999. PMID: 10025808

6

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Klein C, et al. Among authors: ozelius lj. Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):5173-6. doi: 10.1073/pnas.96.9.5173. Proc Natl Acad Sci U S A. 1999. PMID: 10220438 Free PMC article.

7

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

8

Concordant late onset of craniocervical dystonia in a pair of monozygotic twins.

Sieberer MG, Vieregge P, Klein C, Ozelius LJ, Wandinger KP. Sieberer MG, et al. Among authors: ozelius lj. Mov Disord. 1999 Nov;14(6):1040-3. doi: 10.1002/1531-8257(199911)14:6<1040::aid-mds1025>3.0.co;2-9. Mov Disord. 1999. PMID: 10584687 No abstract available.

9

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

10

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. Genomics. 1999 Dec 15;62(3):377-84. doi: 10.1006/geno.1999.6039. Genomics. 1999. PMID: 10644435

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