J P Rubio

Summary

Affiliation: The Walter and Eliza Hall Institute of Medical Research
Country: Australia

Publications

  1. ncbi request reprint The current state of multiple sclerosis genetic research
    J P Rubio
    Department of Statistics, University of California, Berkeley, USA
    Ann Acad Med Singapore 29:322-30. 2000
  2. pmc Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis
    Justin P Rubio
    Walter and Eliza Hall Institute of Medical Research, and Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Melbourne, Victoria, Australia
    Am J Hum Genet 70:1125-37. 2002
  3. ncbi request reprint Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis
    Justin P Rubio
    Walter and Eliza Hall Institute of Medical Research, 3050 Parkville, Victoria, Australia
    Hum Genet 114:573-80. 2004
  4. doi request reprint Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition
    Anneke van der Walt
    Department of Neurology, The Royal Melbourne Hospital, Melbourne, Australia
    Mult Scler 17:344-52. 2011
  5. doi request reprint Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
    J P Rubio
    The Howard Florey Institute, Melbourne, Victoria, Australia
    Genes Immun 9:624-30. 2008
  6. ncbi request reprint SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians
    R K Burfoot
    Howard Florey Institute, University of Melbourne, Melbourne, Victoria, Australia
    Tissue Antigens 71:42-50. 2008
  7. doi request reprint A DNA resequencing array for genes involved in Parkinson's disease
    E J Wilkins
    Florey Neuroscience Institutes, Melbourne, Australia Centre for Neuroscience, The University of Melbourne, Australia
    Parkinsonism Relat Disord 18:386-90. 2012
  8. pmc Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne Bundoora, Victoria, Australia
    Clin Genet 76:471-6. 2009
  9. ncbi request reprint Validation of linear cerebral atrophy markers in multiple sclerosis
    H Butzkueven
    Multiple Sclerosis Clinical and Research Unit, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
    J Clin Neurosci 15:130-7. 2008
  10. ncbi request reprint Plasmodium falciparum: the pfmdr2 protein is not overexpressed in chloroquine-resistant isolates of the malaria parasite
    J P Rubio
    Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia
    Exp Parasitol 79:137-47. 1994

Collaborators

Detail Information

Publications17

  1. ncbi request reprint The current state of multiple sclerosis genetic research
    J P Rubio
    Department of Statistics, University of California, Berkeley, USA
    Ann Acad Med Singapore 29:322-30. 2000
    ..The different methodologies are discussed, and specific studies are reviewed in context...
  2. pmc Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis
    Justin P Rubio
    Walter and Eliza Hall Institute of Medical Research, and Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Melbourne, Victoria, Australia
    Am J Hum Genet 70:1125-37. 2002
    ..We propose that the analysis of haplotypes, by use of the types of approaches outlined in the present article, should make it possible to more accurately define the contribution of the HLA to MS...
  3. ncbi request reprint Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis
    Justin P Rubio
    Walter and Eliza Hall Institute of Medical Research, 3050 Parkville, Victoria, Australia
    Hum Genet 114:573-80. 2004
    ..1) and that it does not play an independent role in predisposition to MS. However, our findings provide the impetus for further investigations into the role of iron metabolism in the severity of MS...
  4. doi request reprint Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition
    Anneke van der Walt
    Department of Neurology, The Royal Melbourne Hospital, Melbourne, Australia
    Mult Scler 17:344-52. 2011
    ..We examined the influence of DR15 and other common DRB1 alleles (DRB1*01 (DR1), DRB1*03 (DR3) and DRB1*04 (DR4) on MS severity in a large, Australian, population-based cohort...
  5. doi request reprint Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
    J P Rubio
    The Howard Florey Institute, Melbourne, Victoria, Australia
    Genes Immun 9:624-30. 2008
    ....
  6. ncbi request reprint SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians
    R K Burfoot
    Howard Florey Institute, University of Melbourne, Melbourne, Victoria, Australia
    Tissue Antigens 71:42-50. 2008
    ..We have therefore identified plausible candidates for the causal MS susceptibility allele, and although not conclusive at this stage, our data provide suggestive evidence for multiple class I MS susceptibility genes...
  7. doi request reprint A DNA resequencing array for genes involved in Parkinson's disease
    E J Wilkins
    Florey Neuroscience Institutes, Melbourne, Australia Centre for Neuroscience, The University of Melbourne, Australia
    Parkinsonism Relat Disord 18:386-90. 2012
    ....
  8. pmc Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne Bundoora, Victoria, Australia
    Clin Genet 76:471-6. 2009
    ..33, 95% CI: 1.06-5.13), compared with controls. The results suggest that the FMR1 grey zone alleles, as well as premutation alleles, might contribute to the aetiology of disorders associated with parkinsonism...
  9. ncbi request reprint Validation of linear cerebral atrophy markers in multiple sclerosis
    H Butzkueven
    Multiple Sclerosis Clinical and Research Unit, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
    J Clin Neurosci 15:130-7. 2008
    ..77, p<0.01) and TVW (R=-0.71, p<0.01). This study shows that ICD measurements obtained from clinical MRI scans are valid brain atrophy measures for use in monitoring MS progression...
  10. ncbi request reprint Plasmodium falciparum: the pfmdr2 protein is not overexpressed in chloroquine-resistant isolates of the malaria parasite
    J P Rubio
    Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia
    Exp Parasitol 79:137-47. 1994
    ..These results support the evidence that pfmdr2 is not involved in the chloroquine resistance phenotype...
  11. ncbi request reprint On the utility of data from the International HapMap Project for Australian association studies
    Jim Stankovich
    Division of Genetics and Bioinformatics, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, 3050 Parkville, Victoria, Australia
    Hum Genet 119:220-2. 2006
    ..Patterns of LD in the Australian and HapMap samples are similar, and tag SNPs chosen using HapMap genotypes perform almost as well on Australian samples as tags chosen using Australian genotypes...
  12. pmc Variants of ST8SIA1 are associated with risk of developing multiple sclerosis
    Seema Husain
    Institute of Genomic Medicine and Department of Pediatrics, UMDNJ New Jersey Medical School, Newark, New Jersey, United States of America
    PLoS ONE 3:e2653. 2008
    ..001, p = 0.01 and p = 0.01 respectively. These findings implicate ST8SIA1 as a possible novel susceptibility gene for MS...
  13. ncbi request reprint Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data
    Melanie Bahlo
    The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, 3050 Parkville, Vic, Australia
    Hum Genet 119:38-50. 2006
    ..The statistic has low type I error and greater power to map disease loci over conventional single marker tests for low to moderate levels of LD...
  14. ncbi request reprint Multiple sclerosis: a haplotype association study
    Simon J Foote
    The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3050, Australia
    Novartis Found Symp 267:31-9; discussion 39-45. 2005
    ..These loci demonstrate an increase in sharing of multi-marker haplotypes in MS cases compared to both population control transmitted haplotypes and case non-transmitted haplotypes...
  15. ncbi request reprint Identifying nineteenth century genealogical links from genotypes
    Jim Stankovich
    Division of Genetics and Bioinformatics, Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
    Hum Genet 117:188-99. 2005
    ....
  16. ncbi request reprint Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients
    Justin P Rubio
    The Neurogenetics Laboratory, The Howard Florey Institute, University of Melbourne, Melbourne, Victoria, Australia
    Immunogenetics 59:177-86. 2007
    ..0006; OR 2.83 [1.54-5.19]). Together, these data confirm that an alternate MS risk locus exists in the extended class I region in Tasmanian MS patients independent of DRB1*15...
  17. ncbi request reprint Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease
    Yue Huang
    Prince of Wales Medical Research Institute, University of New South Wales, Australia
    Mov Disord 22:982-9. 2007
    ..Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population...