Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Xandra Owens Breakefield, Ph.D.

Co-Author

This page shows the publications co-authored by Xandra Breakefield and Laurie Ozelius.
Connection Strength

3.757
  1. TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism. Mov Disord. 2021 01; 36(1):206-215.
    View in: PubMed
    Score: 0.234
  2. Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function. Mol Ther Nucleic Acids. 2020 Sep 04; 21:1-12.
    View in: PubMed
    Score: 0.228
  3. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics. 1999 Dec 15; 62(3):377-84.
    View in: PubMed
    Score: 0.221
  4. The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv Neurol. 1998; 78:93-105.
    View in: PubMed
    Score: 0.193
  5. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. Proc Natl Acad Sci U S A. 2017 12 19; 114(51):E11020-E11028.
    View in: PubMed
    Score: 0.193
  6. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997 Sep; 17(1):40-8.
    View in: PubMed
    Score: 0.189
  7. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 1997 May; 7(5):483-94.
    View in: PubMed
    Score: 0.185
  8. Co-factor insufficiency in dystonia-parkinsonian syndrome. Nat Genet. 1994 Nov; 8(3):207-9.
    View in: PubMed
    Score: 0.155
  9. Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet. 1992 May; 1(2):141.
    View in: PubMed
    Score: 0.131
  10. MspI RFLP for human MAOA gene. Nucleic Acids Res. 1989 Dec 25; 17(24):10516.
    View in: PubMed
    Score: 0.111
  11. A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113. Nucleic Acids Res. 1986 Aug 26; 14(16):6782.
    View in: PubMed
    Score: 0.088
  12. Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Mov Disord. 2004 Jul; 19(7):845-847.
    View in: PubMed
    Score: 0.076
  13. TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J Neurosci Res. 2003 Apr 15; 72(2):158-68.
    View in: PubMed
    Score: 0.070
  14. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol. 2002 Nov; 52(5):675-9.
    View in: PubMed
    Score: 0.068
  15. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord. 2002 Mar; 17(2):339-45.
    View in: PubMed
    Score: 0.065
  16. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics. 2001 Jul; 3(3):133-43.
    View in: PubMed
    Score: 0.062
  17. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol. 2000 Jul; 48(1):65-71.
    View in: PubMed
    Score: 0.058
  18. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet. 2000 May 22; 9(9):1403-13.
    View in: PubMed
    Score: 0.057
  19. Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany. Ann Hum Genet. 1999 Jul; 63(Pt 4):285-91.
    View in: PubMed
    Score: 0.054
  20. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci U S A. 1999 Apr 27; 96(9):5173-6.
    View in: PubMed
    Score: 0.053
  21. Genetic analysis of three patients with an 18p- syndrome and dystonia. Neurology. 1999 Feb; 52(3):649-51.
    View in: PubMed
    Score: 0.052
  22. Genetics of primary dystonia. Semin Neurol. 1999; 19(3):271-80.
    View in: PubMed
    Score: 0.052
  23. Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. Genomics. 1998 Nov 15; 54(1):176-7.
    View in: PubMed
    Score: 0.051
  24. Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann Neurol. 1998 Sep; 44(3):394-8.
    View in: PubMed
    Score: 0.051
  25. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet. 1998 Jul; 7(7):1133-6.
    View in: PubMed
    Score: 0.050
  26. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018 02 22; 172(5):897-909.e21.
    View in: PubMed
    Score: 0.049
  27. Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia. Mov Disord. 1996 Mar; 11(2):163-6.
    View in: PubMed
    Score: 0.043
  28. Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes. Adv Neurol. 1996; 69:87-95.
    View in: PubMed
    Score: 0.042
  29. Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry. 1995 Aug; 59(2):178-81.
    View in: PubMed
    Score: 0.041
  30. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol. 1994 Sep; 36(3):387-96.
    View in: PubMed
    Score: 0.038
  31. Rapid-onset dystonia-parkinsonism. Neurology. 1993 Dec; 43(12):2596-602.
    View in: PubMed
    Score: 0.036
  32. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun; 4(2):160-4.
    View in: PubMed
    Score: 0.035
  33. Exclusion of familial dysautonomia from more than 60% of the genome. J Med Genet. 1993 Jan; 30(1):47-52.
    View in: PubMed
    Score: 0.034
  34. A genetic linkage map of human chromosome 9q. Genomics. 1992 Nov; 14(3):715-20.
    View in: PubMed
    Score: 0.034
  35. Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene. Genomics. 1992 Jan; 12(1):176-7.
    View in: PubMed
    Score: 0.032
  36. BanI RFLP at AK1 locus (9q34). Nucleic Acids Res. 1991 Oct 25; 19(20):5798.
    View in: PubMed
    Score: 0.031
  37. Dinucleotide repeat polymorphism (D16S285) on human chromosome 16. Nucleic Acids Res. 1991 Oct 11; 19(19):5449.
    View in: PubMed
    Score: 0.031
  38. Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet. 1991 Aug; 49(2):366-71.
    View in: PubMed
    Score: 0.031
  39. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet. 1991 Jan; 48(1):121-8.
    View in: PubMed
    Score: 0.030
  40. The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs. Nucleic Acids Res. 1989 Jun 12; 17(11):4425.
    View in: PubMed
    Score: 0.027
  41. Molecular genetics of an autosomal dominant form of torsion dystonia. Adv Neurol. 1988; 50:57-66.
    View in: PubMed
    Score: 0.024
  42. Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis. Genet Epidemiol. 1987; 4(5):377-86.
    View in: PubMed
    Score: 0.023
  43. DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. Mol Biol Med. 1986 Dec; 3(6):483-94.
    View in: PubMed
    Score: 0.022
  44. Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms. J Neurogenet. 1986 May; 3(3):159-75.
    View in: PubMed
    Score: 0.022
  45. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet. 2006 Apr 15; 15(8):1355-64.
    View in: PubMed
    Score: 0.021
  46. TorsinB--perinuclear location and association with torsinA. J Neurochem. 2004 Jun; 89(5):1186-94.
    View in: PubMed
    Score: 0.019
  47. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology. 2004 Feb 10; 62(3):395-400.
    View in: PubMed
    Score: 0.018
  48. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003 Feb; 12(1):11-24.
    View in: PubMed
    Score: 0.017
  49. Clinical findings of a myoclonus-dystonia family with two distinct mutations. Neurology. 2002 Oct 22; 59(8):1244-6.
    View in: PubMed
    Score: 0.017
  50. Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat. Brain Res Mol Brain Res. 2002 May 30; 101(1-2):132-5.
    View in: PubMed
    Score: 0.016
  51. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol. 2002 May; 51(5):621-5.
    View in: PubMed
    Score: 0.016
  52. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord. 2002 Mar; 17(2):424-6.
    View in: PubMed
    Score: 0.016
  53. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet. 2001 Aug 01; 10(16):1649-56.
    View in: PubMed
    Score: 0.015
  54. A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol. 2001 Jul; 159(1):339-44.
    View in: PubMed
    Score: 0.015
  55. The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology. 2000 Nov 14; 55(9):1417-8.
    View in: PubMed
    Score: 0.015
  56. [Genetics of dystonia]. Nervenarzt. 2000 Jun; 71(6):431-41.
    View in: PubMed
    Score: 0.014
  57. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000 May 09; 54(9):1746-52.
    View in: PubMed
    Score: 0.014
  58. Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol. 2000 Mar; 47(3):369-73.
    View in: PubMed
    Score: 0.014
  59. Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Ann Neurol. 1999 Nov; 46(5):761-9.
    View in: PubMed
    Score: 0.014
  60. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999 Aug; 46(2):176-82.
    View in: PubMed
    Score: 0.013
  61. 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. Genet Test. 1999; 3(4):323-8.
    View in: PubMed
    Score: 0.013
  62. Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am J Hum Genet. 1998 Dec; 63(6):1777-82.
    View in: PubMed
    Score: 0.013
  63. Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann Neurol. 1998 May; 43(5):669-73.
    View in: PubMed
    Score: 0.012
  64. Clinical-genetic spectrum of primary dystonia. Adv Neurol. 1998; 78:79-91.
    View in: PubMed
    Score: 0.012
  65. The role of the DYT1 gene in secondary dystonia. Adv Neurol. 1998; 78:107-15.
    View in: PubMed
    Score: 0.012
  66. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol. 1998; 78:335-9.
    View in: PubMed
    Score: 0.012
  67. Secondary dystonia and the DYTI gene. Neurology. 1997 Jun; 48(6):1571-7.
    View in: PubMed
    Score: 0.012
  68. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet. 1995 Feb; 9(2):152-9.
    View in: PubMed
    Score: 0.010
  69. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol. 1994 Nov; 36(5):771-7.
    View in: PubMed
    Score: 0.010
  70. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet. 1993 Jan; 52(1):89-95.
    View in: PubMed
    Score: 0.009
  71. A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. Neurology. 1992 Dec; 42(12):2251-7.
    View in: PubMed
    Score: 0.009
  72. RFLP for human DBH (dopamine beta-hydroxylase). Nucleic Acids Res. 1990 Jan 25; 18(2):387.
    View in: PubMed
    Score: 0.007
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.