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73 results

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Page 1
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.
Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M. Loesch DZ, et al. Among authors: rubio jp. Clin Genet. 2009 Nov;76(5):471-6. doi: 10.1111/j.1399-0004.2009.01275.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796183 Free PMC article.
A DNA resequencing array for genes involved in Parkinson's disease.
Wilkins EJ, Rubio JP, Kotschet KE, Cowie TF, Boon WC, O'Hely M, Burfoot R, Wang W, Sue CM, Speed TP, Stankovitch J, Horne MK. Wilkins EJ, et al. Among authors: rubio jp. Parkinsonism Relat Disord. 2012 May;18(4):386-90. doi: 10.1016/j.parkreldis.2011.12.012. Epub 2012 Jan 12. Parkinsonism Relat Disord. 2012. PMID: 22243833
A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis.
Field J, Browning SR, Johnson LJ, Danoy P, Varney MD, Tait BD, Gandhi KS, Charlesworth JC, Heard RN; Australia and New Zealand Multiple Sclerosis Genetics Consortium; Stewart GJ, Kilpatrick TJ, Foote SJ, Bahlo M, Butzkueven H, Wiley J, Booth DR, Taylor BV, Brown MA, Rubio JP, Stankovich J. Field J, et al. Among authors: rubio jp. PLoS One. 2010 Oct 26;5(10):e13454. doi: 10.1371/journal.pone.0013454. PLoS One. 2010. PMID: 21049023 Free PMC article.
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Dotti MT, Battisti C, Malandrini A, Federico A, Rubio JP, Circiarello G, Monaco AP. Dotti MT, et al. Among authors: rubio jp. Mov Disord. 2000 Nov;15(6):1282-4. doi: 10.1002/1531-8257(200011)15:6<1282::aid-mds1042>3.0.co;2-2. Mov Disord. 2000. PMID: 11104227 No abstract available.
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.
Lee SH, Harold D, Nyholt DR; ANZGene Consortium; International Endogene Consortium; Genetic and Environmental Risk for Alzheimer's disease Consortium; Goddard ME, Zondervan KT, Williams J, Montgomery GW, Wray NR, Visscher PM. Lee SH, et al. Hum Mol Genet. 2013 Feb 15;22(4):832-41. doi: 10.1093/hmg/dds491. Epub 2012 Nov 28. Hum Mol Genet. 2013. PMID: 23193196 Free PMC article.
Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
Jensen CJ, Stankovich J, Van der Walt A, Bahlo M, Taylor BV, van der Mei IA, Foote SJ, Kilpatrick TJ, Johnson LJ, Wilkins E, Field J, Danoy P, Brown MA; Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene); Rubio JP, Butzkueven H. Jensen CJ, et al. Among authors: rubio jp. PLoS One. 2010 Apr 2;5(4):e10003. doi: 10.1371/journal.pone.0010003. PLoS One. 2010. PMID: 20368992 Free PMC article.
SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians.
Burfoot RK, Jensen CJ, Field J, Stankovich J, Varney MD, Johnson LJ, Butzkueven H, Booth D, Bahlo M, Tait BD, Taylor BV, Speed TP, Heard R, Stewart GJ, Foote SJ, Kilpatrick TJ, Rubio JP. Burfoot RK, et al. Among authors: rubio jp. Tissue Antigens. 2008 Jan;71(1):42-50. doi: 10.1111/j.1399-0039.2007.00962.x. Epub 2007 Oct 30. Tissue Antigens. 2008. PMID: 17971048
73 results