Breakefield XO - Search Results

1

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Klein C, et al. Among authors: breakefield xo. Ann Neurol. 2000 Jul;48(1):65-71. Ann Neurol. 2000. PMID: 10894217

2

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

3

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.

Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ. Klein C, et al. Among authors: breakefield xo. Ann Neurol. 2002 Nov;52(5):675-9. doi: 10.1002/ana.10358. Ann Neurol. 2002. PMID: 12402271

4

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Breakefield XO, Kramer PL, Ozelius LJ, Klein C. Pramstaller PP, et al. Among authors: breakefield xo. Mov Disord. 2002 Mar;17(2):424-6. doi: 10.1002/mds.10071. Mov Disord. 2002. PMID: 11921141 No abstract available.

5

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. Kann M, et al. Among authors: breakefield xo. Ann Neurol. 2002 May;51(5):621-5. doi: 10.1002/ana.10179. Ann Neurol. 2002. PMID: 12112109

6

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: breakefield xo. Neurology. 1993 Dec;43(12):2596-602. doi: 10.1212/wnl.43.12.2596. Neurology. 1993. PMID: 8255463

7

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

Augood SJ, Penney JB Jr, Friberg IK, Breakefield XO, Young AB, Ozelius LJ, Standaert DG. Augood SJ, et al. Among authors: breakefield xo. Ann Neurol. 1998 May;43(5):669-73. doi: 10.1002/ana.410430518. Ann Neurol. 1998. PMID: 9585364

8

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: breakefield xo. Ann Neurol. 1998 Sep;44(3):394-8. doi: 10.1002/ana.410440318. Ann Neurol. 1998. PMID: 9749609

9

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: breakefield xo. Neurology. 1999 Feb;52(3):649-51. doi: 10.1212/wnl.52.3.649. Neurology. 1999. PMID: 10025808

10

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: breakefield xo. 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

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