O A Ross

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Ann Neurol 64:88-92. 2008
  2. pmc Genomic investigation of alpha-synuclein multiplication and parkinsonism
    Owen A Ross
    Division of Neurogenetics, Department of Neuroscience, College of Medicine, Mayo Clinic, Jacksonville, FL 32224, USA
    Ann Neurol 63:743-50. 2008
  3. pmc Genetic variation of Omi/HtrA2 and Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, United States
    Parkinsonism Relat Disord 14:539-43. 2008
  4. pmc NOTCH3 variants and risk of ischemic stroke
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America
    PLoS ONE 8:e75035. 2013
  5. pmc TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    Sruti Rayaprolu
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Mol Neurodegener 8:19. 2013
  6. pmc Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications
    Mariet Allen
    Mayo Clinic Florida, Department of Neuroscience, Jacksonville, FL, USA
    Mol Neurodegener 7:13. 2012
  7. pmc Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study
    Lisa F Potts
    Department of Anatomical Sciences and Neurobiology, University of Louisville, KY, USA
    BMC Med Genet 13:16. 2012
  8. pmc Copy number variation in Parkinson's disease
    Mathias Toft
    Department of Neurology, Oslo University Hospital, Rikshospitalet, Sognsvannsveien, 0027 Oslo, Norway
    Genome Med 2:62. 2010
  9. pmc Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Mech Ageing Dev 128:378-82. 2007
  10. pmc Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 15:466-7. 2009

Detail Information

Publications80

  1. ncbi Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Ann Neurol 64:88-92. 2008
    ..20-2.83; p = 0.006). Haplotype analysis suggests an ancestral founder for carriers approximately 2,500 years ago. These findings support the importance of LRRK2 variants in sporadic Parkinson's disease. Ann Neurol 2008...
  2. pmc Genomic investigation of alpha-synuclein multiplication and parkinsonism
    Owen A Ross
    Division of Neurogenetics, Department of Neuroscience, College of Medicine, Mayo Clinic, Jacksonville, FL 32224, USA
    Ann Neurol 63:743-50. 2008
    ..Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the alpha-synuclein gene (SNCA)...
  3. pmc Genetic variation of Omi/HtrA2 and Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, United States
    Parkinsonism Relat Disord 14:539-43. 2008
    ..Taken together our results do not support a role for Omi/HtrA2 variants in the pathogenesis of Parkinson's disease...
  4. pmc NOTCH3 variants and risk of ischemic stroke
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America
    PLoS ONE 8:e75035. 2013
    ..The role of other exonic NOTCH3 variation not involving cysteine residues and mutations in exons 25-33 in ischemic stroke remains unresolved...
  5. pmc TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    Sruti Rayaprolu
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Mol Neurodegener 8:19. 2013
    ..With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders...
  6. pmc Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications
    Mariet Allen
    Mayo Clinic Florida, Department of Neuroscience, Jacksonville, FL, USA
    Mol Neurodegener 7:13. 2012
    ..4,617 controls) and PD (678 PDs vs. 712 controls) for association with disease risk (case-controls), age-at-diagnosis (cases) and brain gene expression levels (autopsied subjects)...
  7. pmc Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study
    Lisa F Potts
    Department of Anatomical Sciences and Neurobiology, University of Louisville, KY, USA
    BMC Med Genet 13:16. 2012
    ....
  8. pmc Copy number variation in Parkinson's disease
    Mathias Toft
    Department of Neurology, Oslo University Hospital, Rikshospitalet, Sognsvannsveien, 0027 Oslo, Norway
    Genome Med 2:62. 2010
    ..Here, we review the role of copy number variants and the mechanistic insights they have provided on the pathogenesis of Parkinson's disease...
  9. pmc Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Mech Ageing Dev 128:378-82. 2007
    ..It is now crucial to identify the susceptibility allele and elucidate its functionality which may generate a therapeutic target for PD...
  10. pmc Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 15:466-7. 2009
    ..The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution...
  11. pmc Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 14:544-7. 2008
    ..We observed a modest association between DBH -1021C>T and AAO in the combined series (p=0.01). Taken together, these findings indicate that DBH -1021C>T does not play a major role in the pathogenesis of Parkinson's disease...
  12. ncbi Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 13:386-8. 2007
    ..These data do not support a role for this common variant in PD etiology...
  13. ncbi Lrrk2 R1441 substitution and progressive supranuclear palsy
    O A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neuropathol Appl Neurobiol 32:23-5. 2006
    ..No evidence was found for the presence of a mutation at this codon in our series. These data would suggest that this Lrrk2 variant does not contribute in susceptibility to PSP...
  14. pmc LRRK2 variation and Parkinson's disease in African Americans
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
    Mov Disord 25:1973-6. 2010
    ..Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted...
  15. pmc Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Lancet Neurol 10:898-908. 2011
    ..We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility...
  16. pmc Association of the MAPT locus with Parkinson's disease
    C Wider
    Department of Neuroscience, Mayo Clinic, Molecular Genetics Laboratory and Core, Morris K Udall Parkinsons Disease Research Center of Excellence, Jacksonville, FL 32224, USA
    Eur J Neurol 17:483-6. 2010
    ..Whilst an association between the tau gene (MAPT)-containing H1 haplotype and supranuclear gaze palsy (PSP) has long been recognized, the effect of H1 on risk for Parkinson's disease (PD) has remained more contentious...
  17. pmc Characterization of DCTN1 genetic variability in neurodegeneration
    C Vilariño-Güell
    Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 72:2024-8. 2009
    ....
  18. ncbi Calbindin-1 association and Parkinson's disease
    A I Soto-Ortolaza
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Eur J Neurol 17:208-11. 2010
    ..Recently, an association was reported between the calcium buffer, calbindin (rs1805874) and risk of PD in a Japanese patient-control series...
  19. pmc Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke
    M G Heckman
    Biostatistics Unit, Mayo Clinic, Jacksonville, FL 32224, USA
    Eur J Neurol 20:300-8. 2013
    ..This study evaluated whether genetic risk factors for CAD and MI also affect susceptibility to ischaemic stroke in Caucasians and African Americans...
  20. doi Death-associated protein kinase 1 variation and Parkinson's disease
    J C Dachsel
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Eur J Neurol 18:1090-3. 2011
    ..The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer's disease...
  21. doi SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study
    C Wider
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Eur J Neurol 18:876-81. 2011
    ..In the current study, we attempt to validate previously published findings, evaluating gene-gene interactions between SNCA, MAPT, and GSK3B in association with PD...
  22. pmc Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations
    Jennifer Kachergus
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Am J Hum Genet 76:672-80. 2005
    ..Our work highlights the fact that a proportion of clinically typical, late-onset PD cases have a genetic basis...
  23. pmc Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
    K Haugarvoll
    Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurology 70:1456-60. 2008
    ..Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C...
  24. ncbi Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis
    A J Whittle
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA
    J Neural Transm 114:327-9. 2007
    ..However we can not rule out other genetic variation at the LRRK2 locus may play a role in parkinsonian disorders with amyotrophic lateral sclerosis and may be considered candidates for genetic screening...
  25. ncbi GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease
    B Jasinska-Myga
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Eur J Neurol 16:909-11. 2009
    ..rs5848 is located within a micro-RNA binding site and affects the expression of GRN...
  26. ncbi GCH1 in early-onset Parkinson's disease
    Stephanie A Cobb
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Mov Disord 24:2070-5. 2009
    ..This study does not support a significant role for genetic variation at the GCH1 locus in EOPD. However, our results further highlight the relevance of PRKN screening in familial EOPD...
  27. pmc Phactr2 and Parkinson's disease
    Christian Wider
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Neurosci Lett 453:9-11. 2009
    ..15, P=0.27). When combining all four series the observed trend was statistically significant (OR: 1.30, P<0.001). This study shows that reappraisal of publicly available results of GWAS may help nominate new risk factors for PD...
  28. ncbi LRRK2 mutations are a common cause of Parkinson's disease in Spain
    I F Mata
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Eur J Neurol 13:391-4. 2006
    ..None of these patients presented with a family history of parkinsonism at the time of diagnosis. Thus, approximately 5% of sporadic patients with PD from the North of Spain have either Lrrk2 G2019S or R1441G substitutions...
  29. ncbi Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease
    Julie P Taylor
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurogenetics 8:95-102. 2007
    ..Comparison of evolutionary interspecies sequences of LRRK1 and LRRK2 suggests they diverged from a common founder gene...
  30. ncbi Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
    Mathias Toft
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
    Mov Disord 22:389-92. 2007
    ..3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease...
  31. pmc Linkage disequilibrium and association of MAPT H1 in Parkinson disease
    Lisa Skipper
    Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Am J Hum Genet 75:669-77. 2004
    ..Using a sliding scale of MAPT H1-specific haplotypes--in age/sex-matched PD cases and controls from central Norway--we have refined the disease association to within an approximately 90-kb interval of the 5' end of the MAPT locus...
  32. pmc Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor
    Brett H Keeling
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 16:112-4. 2010
    ....
  33. pmc Fine-mapping and candidate gene investigation within the PARK10 locus
    Kristoffer Haugarvoll
    Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Eur J Hum Genet 17:336-43. 2009
    ..Our data indicate that genetic variability in USP24 is associated with PD. Although our work extends and confirms a previous report, the observed effect size does not explain the PARK10 linkage peak...
  34. pmc Glucosidase-beta variations and Lewy body disorders
    Matthew J Farrer
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 15:414-6. 2009
    ..0 (95% CI: 0.3-29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests glucosidase-beta variants have a limited role in susceptibility to Lewy body disease in North America...
  35. ncbi A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease
    Kenya Nishioka
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    J Neurol Neurosurg Psychiatry 81:391-5. 2010
    ..As future therapies are targeted to specific protein abnormalities, identifying the genetic causes and associated clinical and pathological features will determine diagnosis, preventative medicine and drug intervention strategies...
  36. pmc LINGO1 rs9652490 is associated with essential tremor and Parkinson disease
    Carles Vilariño-Güell
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 16:109-11. 2010
    ..Our study demonstrates a significant association between LINGO1 rs9652490 and essential tremor (P = 0.014) and Parkinson disease (P = 0.0003), thus providing the first evidence of a genetic link between both diseases...
  37. pmc Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease
    Justus C Dachsel
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Mech Ageing Dev 131:210-4. 2010
    ..2 years younger age at disease onset. In conclusion we show that the interaction of Lrrk1-Lrrk2 can form protein dimers and this interaction may influence the age of symptomatic manifestation in Lrrk2-parkinsonism patients...
  38. pmc FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression
    Christian Wider
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Mov Disord 24:455-9. 2009
    ..We found no evidence of association between FGF20 variability and PD risk, and no relationship between the rs12720208 genotype, FGF20 and alpha-synuclein protein levels...
  39. pmc DCTN1 mutations in Perry syndrome
    Matthew J Farrer
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA
    Nat Genet 41:163-5. 2009
    ..Our findings show that DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders...
  40. ncbi ELAVL4, PARK10, and the Celts
    Kristoffer Haugarvoll
    Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA
    Mov Disord 22:585-7. 2007
    ..Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect...
  41. ncbi Clinical heterogeneity of the LRRK2 G2019S mutation
    Spiridon Papapetropoulos
    Department of Neurology, University of Miami School of Medicine, Miami, FL, USA
    Arch Neurol 63:1242-6. 2006
    ..The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease...
  42. doi Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease
    Kenya Nishioka
    Department of Neuroscience, Mayo Clinic Florida, 4500 San Pablo Rd, Jacksonville, FL 32224, USA
    Arch Neurol 67:970-5. 2010
    ..To determine the association of the genes that encode alpha-, beta-, and gamma-synuclein (SNCA, SNCB, and SNCG, respectively) with diffuse Lewy body disease (DLBD)...
  43. ncbi Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia
    Matthew J Farrer
    Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 13:89-92. 2007
    ..Moreover, our findings demonstrate that common genetic coding variants contribute to Parkinson's disease in a population specific manner which may have important implications for future genome-wide association studies...
  44. ncbi Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
    Kristoffer Haugarvoll
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA, and Department of Neurology, St Olav s Hospital, Trondheim, Norway
    Neurosci Lett 416:299-301. 2007
    ..Two rare coding variants ss65713826 and ss65713830 were more frequent in patients than controls. However, their identification in healthy controls and lack of co-segregation with disease suggests they may represent benign polymorphisms...
  45. ncbi A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease
    H L Melrose
    Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neuroscience 147:1047-58. 2007
    ..A role for Lrrk2 in neurogenesis might provide further insight into the aberrant role of mutant protein in age-associated neurodegeneration with pleomorphic pathology...
  46. pmc A family with Parkinsonism, essential tremor, restless legs syndrome, and depression
    A Puschmann
    Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 76:1623-30. 2011
    ..Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS)...
  47. pmc DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease
    Brett H Keeling
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 461:74-5. 2009
    ..Statistical analysis failed to identify significant differences in the frequency of these variants between the case and control groups; therefore our results do not support a role for these DRD3 and HS1BP3 variants in PD...
  48. ncbi Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2
    Justus C Dachsel
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA
    Neurosci Lett 410:80-4. 2006
    ..However, in vivo studies are required to assess whether there is an indirect link between Lrrk2 and parkin in disease pathogenesis...
  49. ncbi Lrrk2 and Lewy body disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Ann Neurol 59:388-93. 2006
    ..The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease...
  50. ncbi LRRK2 mutations are not common in Alzheimer's disease
    Mathias Toft
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Mech Ageing Dev 126:1201-5. 2005
    ..However, these results do not exclude a possible role of other genetic variants within the LRRK2 gene in AD or other forms of dementia...
  51. ncbi Advancing stroke therapeutics through genetic understanding
    O A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Curr Drug Targets 8:850-9. 2007
    ..Identifying possible genetic determinants of outcome will also open new avenues of research into stroke therapeutics beyond thrombolysis...
  52. ncbi Pathophysiology, pleiotrophy and paradigm shifts: genetic lessons from Parkinson's disease
    O A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Biochem Soc Trans 33:586-90. 2005
    ..Herein, we provide an overview of the genetics of PD, how these discoveries are revolutionizing long-held beliefs and more importantly how this knowledge may be translated into patient therapy...
  53. pmc Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa
    Kenya Nishioka
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Neurosci Lett 477:57-60. 2010
    ..G2019S variant in North Africa...
  54. pmc Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy
    Sarah J Lincoln
    Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 13:340-2. 2007
    ..The present study did not find any SNCA multiplications in a series of 58 pathologically confirmed MSA cases excluding this event as a common cause of MSA. The question of a genetic component in MSA remains to be answered...
  55. ncbi Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
    Justus C Dachsel
    Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Acta Neuropathol 113:601-6. 2007
    ..These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders...
  56. ncbi Genetics of ischemic stroke: inheritance of a sporadic disorder
    Owen A Ross
    Department of Neurology, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Curr Neurol Neurosci Rep 9:19-27. 2009
    ..Herein we discuss these genes and the potential role of genetics in the more common sporadic form of stroke and therapeutic intervention strategies...
  57. pmc Identification of potential protein interactors of Lrrk2
    Justus C Dachsel
    Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Birdsall Building, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 13:382-5. 2007
    ..Future investigation of these candidates is now warranted and may help resolve the pathomechanism behind Lrrk2 neurodegeneration...
  58. ncbi Hypothetical soluble KIR2DS4 natural killer cell receptor molecule does not associate with successful ageing in the Irish
    Owen A Ross
    School of Biology and Biochemistry, Queens University of Belfast, Medical Biology Centre, and Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland, UK
    Exp Gerontol 39:801-5. 2004
    ....
  59. ncbi Increased frequency of the 2437T allele of the heat shock protein 70-Hom gene in an aged Irish population
    Owen A Ross
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Blood Transfusion Building, City Hospital, Northern Ireland, Belfast, UK
    Exp Gerontol 38:561-5. 2003
    ....
  60. pmc Genomewide association, Parkinson disease, and PARK10
    Matthew J Farrer
    Am J Hum Genet 78:1084-8; author reply 1092-4. 2006
  61. ncbi Investigation of KIR diversity in immunosenescence and longevity within the Irish population
    Lynn D Maxwell
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Blood Transfusion Building, City Hospital, Belfast, Northern Ireland, UK
    Exp Gerontol 39:1223-32. 2004
    ..In view of the lack of studies to date, investigating the role of the KIR gene system in healthy ageing, further analysis of KIR diversity is required to fully elucidate it's role in respect to age-related disease and longevity...
  62. ncbi mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish
    Owen A Ross
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Blood Transfusion Building, City Hospital, Belfast BT9 7TS, Northern Ireland, UK
    Exp Gerontol 38:397-405. 2003
    ..These findings lead one to postulate that the mt4216C variant, in linkage with the mtDNA TJ cluster, may influence mitochondrial dysfunction, resulting in an increased risk of PD...
  63. ncbi Frequency of cytokine polymorphisms in populations from western Europe, Africa, Asia, the Middle East and South America
    Ashley Meenagh
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland
    Hum Immunol 63:1055-61. 2002
    ..Five populations were investigated, Northern Ireland, South African Zulu, Omani, Singapore Chinese and Mexican Mestizos...
  64. ncbi A novel polymorphic triplet repeat in intron five of the alpha-synuclein gene: no evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish
    Owen A Ross
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Blood Transfusion Building, Belfast City Hospital, Belfast BT9 7TS, UK
    Neuroreport 13:1621-5. 2002
    ..These results would suggest that polymorphism of the alpha-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised...
  65. ncbi HLA haplotypes and TNF polymorphism do not associate with longevity in the Irish
    Owen A Ross
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Blood Transfusion Building, City Hospital, BT9 7TS, Northern Ireland, Belfast, UK
    Mech Ageing Dev 124:563-7. 2003
    ..However, no age-related allele or genotype frequencies were observed for either polymorphic nucleotide...
  66. pmc Lrrk2 mutations in South America: A study of Chilean Parkinson's disease
    Carolina Perez-Pastene
    Molecular and Clinical Pharmacology, ICBM, Faculty of Medicine, University of Chile, Casilla 70000, Santiago 7, Chile
    Neurosci Lett 422:193-7. 2007
    ..These findings suggest Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent and further studies are now warranted...
  67. ncbi Common variants in Parkinson's disease
    Owen A Ross
    Mov Disord 22:899-900. 2007
  68. doi Corticobasal syndrome and primary progressive aphasia as manifestations of lrrk2 gene mutations
    Owen A Ross
    Neurology 71:303; author reply 303-4. 2008
  69. ncbi Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain
    María C González-Fernández
    Servicio General de Investigación Genómica, Banco de ADN and Departamento de Z y Biología Celular A, Universidad del Pais Vasco, Vitoria Gasteiz, Spain
    Parkinsonism Relat Disord 13:509-15. 2007
    ..Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas...
  70. ncbi Phenotypic associations of tau and ApoE in Parkinson's disease
    Spiridon Papapetropoulos
    Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL 33136, United States
    Neurosci Lett 414:141-4. 2007
    ..Better determination of subsets of PD patients based upon the presence of specific phenotypic features may improve the accuracy of association studies...
  71. ncbi Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred
    David Gosal
    Mov Disord 22:291-2. 2007
  72. ncbi Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD
    David Gosal
    Department of Neurology, Mater Misericordiae Hospital, Eccles St, Dublin 7, Ireland
    Parkinsonism Relat Disord 11:349-52. 2005
    ..The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease...
  73. ncbi LRRK2 mutations and Parkinsonism
    Mathias Toft
    Lancet 365:1229-30. 2005
  74. ncbi The ups and downs of alpha-synuclein mRNA expression
    Justus C Dachsel
    Mov Disord 22:293-5. 2007
  75. ncbi Frequency of cytokine gene promoter polymorphisms in the Northern Ireland cystic fibrosis population
    Alison P Watt
    Respiratory Research Group, The Queen s University of Belfast, United Kingdom
    J Cyst Fibros 6:363-5. 2007
    ..This study observed no differences in the frequency of cytokine promoter polymorphisms associated with variant levels of expression in patients with CF and a non-CF population of Northern Ireland...
  76. ncbi Study of age-association with cytokine gene polymorphisms in an aged Irish population
    Owen A Ross
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Blood Transfusion Building, Belfast City Hospital, Belfast BT9 7TS, UK
    Mech Ageing Dev 124:199-206. 2003
    ..These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed...
  77. ncbi Lrrking in the background: common pathways of neurodegeneration
    Owen A Ross
    J Am Geriatr Soc 55:804-5. 2007
  78. ncbi Interleukin-6-gene C/G 174 polymorphism in nonagenarian and octogenarian subjects in the BELFAST study. Reciprocal effects on IL-6, soluble IL-6 receptor and for IL-10 in serum and monocyte supernatants
    Irene M Rea
    Department of Geriatric Medicine, Queens University of Belfast, Whitla Medical Building, 97, Lisburn Road, Belfast, UK
    Mech Ageing Dev 124:555-61. 2003
    ....
  79. ncbi Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish
    Owen A Ross
    Department of Geriatric Medicine, Belfast, Ireland
    Hum Immunol 65:340-6. 2004
    ....
  80. ncbi Mitochondrial DNA damage in lymphocytes: a role in immunosenescence?
    Owen A Ross
    Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Blood Transfusion Building, City Hospital, Belfast, Northern Ireland BT9 7TS, UK
    Exp Gerontol 37:329-40. 2002
    ..A similar explanation may also apply to the in vitro model of T cell ageing if the vast majority of the cells are replicating rather than entering senescence...