Ozelius LJ - Search Results

1

GNAL mutation in isolated laryngeal dystonia.

Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. Putzel GG, et al. Among authors: ozelius lj. Mov Disord. 2016 May;31(5):750-5. doi: 10.1002/mds.26502. Epub 2016 Feb 1. Mov Disord. 2016. PMID: 27093447 Free PMC article.

2

Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.

Gasser T, Bove CM, Ozelius LJ, Hallett M, Charness ME, Hochberg FH, Breakefield XO. Gasser T, et al. Among authors: ozelius lj. Mov Disord. 1996 Mar;11(2):163-6. doi: 10.1002/mds.870110208. Mov Disord. 1996. PMID: 8684386

3

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.

Hess CW, Raymond D, Aguiar Pde C, Frucht S, Shriberg J, Heiman GA, Kurlan R, Klein C, Bressman SB, Ozelius LJ, Saunders-Pullman R. Hess CW, et al. Among authors: ozelius lj. Neurology. 2007 Feb 13;68(7):522-4. doi: 10.1212/01.wnl.0000253188.76092.06. Neurology. 2007. PMID: 17296918

4

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.

Lee JY, Gollamudi S, Ozelius LJ, Kim JY, Jeon BS. Lee JY, et al. Among authors: ozelius lj. Mov Disord. 2007 Sep 15;22(12):1808-9. doi: 10.1002/mds.21638. Mov Disord. 2007. PMID: 17595045

5

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S. Raymond D, et al. Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785. Mov Disord. 2008. PMID: 18175340

6

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ. Fuchs T, et al. Among authors: ozelius lj. Nat Genet. 2009 Mar;41(3):286-8. doi: 10.1038/ng.304. Epub 2009 Feb 1. Nat Genet. 2009. PMID: 19182804

7

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Bressman SB, et al. Among authors: ozelius lj. Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09)70081-X. Epub 2009 Apr 1. Lancet Neurol. 2009. PMID: 19345147 Free PMC article.

8

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Sharma N, Franco RA Jr, Kuster JK, Mitchell AA, Fuchs T, Saunders-Pullman R, Raymond D, Brin MF, Blitzer A, Bressman SB, Ozelius LJ. Sharma N, et al. Among authors: ozelius lj. Mov Disord. 2010 Oct 15;25(13):2183-7. doi: 10.1002/mds.23225. Mov Disord. 2010. PMID: 20669276 Free PMC article.

9

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich ME, Girard JP, Ozelius LJ. Gavarini S, et al. Among authors: ozelius lj. Ann Neurol. 2010 Oct;68(4):549-53. doi: 10.1002/ana.22138. Ann Neurol. 2010. PMID: 20865765 Free PMC article.

10

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.

De Carvalho Aguiar P, Fuchs T, Borges V, Lamar KM, Silva SM, Ferraz HB, Ozelius L. De Carvalho Aguiar P, et al. Mov Disord. 2010 Dec 15;25(16):2854-7. doi: 10.1002/mds.23133. Mov Disord. 2010. PMID: 20925076

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