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Genetic Deficiency of Plasma Lipoprotein-Associated Phospholipase A<sub>2</sub> (PLA2G7 V297F Null Mutation) and Risk of Alzheimer's Disease in Japan.
Published in:
Journal of Alzheimer's Disease, 2010, v. 21, n. 3, p. 775, doi. 10.3233/JAD-2010-100513
By:
- Koshy, Beena;
- Miyashita, Akinori;
- St. Jean, Pamela;
- Stirnadel, Heide;
- Kaise, Toshihiko;
- Rubio, Justin P.;
- Mooser, Vincent;
- Kuwano, Ryozo;
- Irizarry, Michael C.
Publication type:
Article
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
Published in:
Nature Genetics, 2009, v. 41, n. 7, p. 824, doi. 10.1038/ng.396
By:
- Bahlo, Melanie;
- Booth, David R;
- Broadley, Simon A;
- Brown, Matthew A;
- Foote, Simon J;
- Griffiths, Lyn R;
- Kilpatrick, Trevor J;
- Lechner-Scott, Jeanette;
- Moscato, Pablo;
- Perreau, Victoria M;
- Rubio, Justin P;
- Scott, Rodney J;
- Stankovich, Jim;
- Stewart, Graeme J;
- Taylor, Bruce V;
- Wiley, James;
- Clarke, Glynnis;
- Cox, Mathew B;
- Csurhes, Peter A;
- Danoy, Patrick
Publication type:
Article
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Published in:
Nature Genetics, 2001, v. 28, n. 2, p. 119, doi. 10.1038/88821
By:
- Rampoldi, Luca;
- Dobson-Stone, Carol;
- Rubio, Justin P.;
- Danek, Adrian;
- Chalmers, Richard M.;
- Wood, Nicholas W.;
- Verellen, Christine;
- Ferrer, Xavier;
- Malandrini, Alessandro;
- Fabrizi, Gian M.;
- Brown, Robert;
- Vance, Jeffery;
- Pericak-Vance, Margaret;
- Rudolf, Gabrielle;
- Carrè, Sophie;
- Alonso, Elisa;
- Manfredi, Michela;
- Németh, Andrea H.;
- Monaco, Anthony P.
Publication type:
Article
A genome-wide association study in progressive multiple sclerosis.
Published in:
Multiple Sclerosis Journal, 2012, v. 18, n. 10, p. 1384, doi. 10.1177/1352458512439118
By:
- Martinelli-Boneschi, Filippo;
- Esposito, Federica;
- Brambilla, Paola;
- Lindström, Eva;
- Lavorgna, Giovanni;
- Stankovich, Jim;
- Rodegher, Mariaemma;
- Capra, Ruggero;
- Ghezzi, Angelo;
- Coniglio, Gabriella;
- Colombo, Bruno;
- Sorosina, Melissa;
- Martinelli, Vittorio;
- Booth, David;
- Oturai, Annette Bang;
- Stewart, Graeme;
- Harbo, Hanne F.;
- Kilpatrick, Trevor John;
- Hillert, Jan;
- Rubio, Justin P
Publication type:
Article
A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis.
Published in:
PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013454
By:
- Field, Judith;
- Browning, Sharon R.;
- Laura J. Johnson;
- Danoy, Patrick;
- Varney, Michael D.;
- Tait, Brian D.;
- Gandhi, Kaushal S.;
- Charlesworth, Jac C.;
- Heard, Robert N.;
- Stewart, Graeme J.;
- Kilpatrick, Trevor J.;
- Foote, Simon J.;
- Bahlo, Melanie;
- Butzkueven, Helmut;
- Wiley, James;
- Booth, David R.;
- Taylor, Bruce V.;
- Brown, Matthew A.;
- Rubio, Justin P.;
- Stankovich, Jim
Publication type:
Article
Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients.
Published in:
PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010003
By:
- Jensen, Cathy J.;
- Stankovich, Jim;
- Van der Walt, Anneke;
- Bahlo, Melanie;
- Taylor, Bruce V.;
- van der Mei, Ingrid A. F.;
- Foote, Simon J.;
- Kilpatrick, Trevor J.;
- Johnson, Laura J.;
- Wilkins, Ella;
- Field, Judith;
- Danoy, Patrick;
- Brown, Matthew A.;
- Rubio, Justin P.;
- Butzkueven, Helmut
Publication type:
Article
Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis.
Published in:
PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002653
By:
- Husain, Seema;
- Yildirim-Toruner, Cagri;
- Rubio, Justin P.;
- Field, Judith;
- Schwalb, Marvin;
- Cook, Stuart;
- Devoto, Marcella;
- Vitale, Emilia
Publication type:
Article
Estimation of the Antirelapse Efficacy of Tafenoquine, Using Plasmodium vivax Genotyping.
Published in:
2016
By:
- Beck, Hans-Peter;
- Wampfler, Rahel;
- Carter, Nick;
- Koh, Gavin;
- Osorio, Lyda;
- Rueangweerayut, Ronnatrai;
- Krudsood, Srivcha;
- Lacerda, Marcus V.;
- Llanos-Cuentas, Alejandro;
- Duparc, Stephan;
- Rubio, Justin P.;
- Green, Justin A.
Publication type:
journal article
Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data.
Published in:
Human Genetics, 2006, v. 119, n. 1/2, p. 38, doi. 10.1007/s00439-005-0114-9
By:
- Bahlo, Melanie;
- Stankovich, Jim;
- Speed, Terence P.;
- Rubio, Justin P.;
- Burfoot, Rachel K.;
- Foote, Simon J.
Publication type:
Article
On the utility of data from the International HapMap Project for Australian association studies.
Published in:
Human Genetics, 2006, v. 119, n. 1/2, p. 220, doi. 10.1007/s00439-005-0120-y
By:
- Stankovich, Jim;
- Cox, Charles J.;
- Tan, Rachel B.;
- Montgomery, Douglas S.;
- Huxtable, Stewart J.;
- Rubio, Justin P.;
- Ehm, Margaret G.;
- Johnson, Laura;
- Butzkueven, Helmut;
- Kilpatrick, Trevor J.;
- Speed, Terence P.;
- Roses, Allen D.;
- Bahlo, Melanie;
- Foote, Simon J.
Publication type:
Article
Identifying nineteenth century genealogical links from genotypes.
Published in:
Human Genetics, 2005, v. 117, n. 2/3, p. 188, doi. 10.1007/s00439-005-1279-y
By:
- Stankovich, Jim;
- Bahlo, Melanie;
- Rubio, Justin P.;
- Wilkinson, Christopher R.;
- Thomson, Russell;
- Banks, Annette;
- Ring, Maree;
- Foote, Simon J.;
- Speed, Terence P.
Publication type:
Article
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.
Published in:
Human Genetics, 2004, v. 114, n. 6, p. 573, doi. 10.1007/s00439-004-1095-9
By:
- Rubio, Justin P.;
- Bahlo, Melanie;
- Tubridy, Niall;
- Stankovich, Jim;
- Burfoot, Rachel;
- Butzkueven, Helmut;
- Chapman, Caron;
- Johnson, Laura;
- Marriott, Mark;
- Mraz, Grant;
- Tait, Brian;
- Wilkinson, Chris;
- Taylor, Bruce;
- Speed, Terence P.;
- Foote, Simon J.;
- Kilpatrick, Trevor J.
Publication type:
Article
Transcriptomic effects of rs4845604, an IBD and allergy-associated RORC variant, in stimulated ex vivo CD4+ T cells.
Published in:
PLoS ONE, 2021, v. 16, n. 10, p. 1, doi. 10.1371/journal.pone.0258316
By:
- Wilson, Paul A.;
- Santos Franco, Sara;
- He, Liu;
- Galwey, Nicholas W.;
- Meakin, Jackie;
- McIntyre, Rebecca;
- McHugh, Simon M.;
- Nolan, Michael A.;
- Spain, Sarah L.;
- Carlson, Thaddeus;
- Lobera, Mercedes;
- Rubio, Justin P.;
- Davis, Bill;
- McCarthy, Linda C.
Publication type:
Article
An 18-kDa Translocator Protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 1, p. 1, doi. 10.1038/jcbfm.2011.147
By:
- Owen, David R;
- Yeo, Astrid J;
- Gunn, Roger N;
- Song, Kijoung;
- Wadsworth, Graham;
- Lewis, Andrew;
- Rhodes, Chris;
- Pulford, David J;
- Bennacef, Idriss;
- Parker, Christine A;
- StJean, Pamela L;
- Cardon, Lon R;
- Mooser, Vincent E;
- Matthews, Paul M;
- Rabiner, Eugenii A;
- Rubio, Justin P
Publication type:
Article
McLeod neuroacanthocytosis: genotype and phenotype.
Published in:
2001
By:
- Danek, Adrian;
- Rubio, Justin P.;
- Rampoldi, Luca;
- Ho, Mengfatt;
- Dobson-Stone, Carol;
- Tison, François;
- Symmans, William A.;
- Oechsner, Matthias;
- Kalckreuth, Wolfgang;
- Watt, Julie M.;
- Corbett, Alastair J.;
- Hamdalla, Hisham H. M.;
- Marshall, Andrew G.;
- Sutton, Ian;
- Dotti, Maria Teresa;
- Malandrini, Alessandro;
- Walker, Ruth H.;
- Daniels, Geoff;
- Monaco, Anthony P.;
- Danek, A
Publication type:
journal article
Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial.
Published in:
Malaria Journal, 2016, v. 15, p. 1, doi. 10.1186/s12936-016-1145-5
By:
- St Jean, Pamela L.;
- Zhengyu Xue;
- Carter, Nick;
- Koh, Gavin C. K. W.;
- Duparc, Stephan;
- Taylor, Maxine;
- Beaumont, Claire;
- Llanos-Cuentas, Alejandro;
- Rueangweerayut, Ronnatrai;
- Krudsood, Srivicha;
- Green, Justin A.;
- Rubio, Justin P.
Publication type:
Article
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Published in:
Human Mutation, 2012, v. 33, n. 7, p. 1087, doi. 10.1002/humu.22075
By:
- Rubio, Justin P.;
- Topp, Simon;
- Warren, Liling;
- St. Jean, Pamela L.;
- Wegmann, Daniel;
- Kessner, Darren;
- Novembre, John;
- Shen, Judong;
- Fraser, Dana;
- Aponte, Jennifer;
- Nangle, Keith;
- Cardon, Lon R.;
- Ehm, Margaret G.;
- Chissoe, Stephanie L.;
- Whittaker, John C.;
- Nelson, Matthew R.;
- Mooser, Vincent E.
Publication type:
Article
Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients.
Published in:
Immunogenetics, 2007, v. 59, n. 3, p. 177, doi. 10.1007/s00251-006-0183-5
By:
- Rubio, Justin P.;
- Bahlo, Melanie;
- Stankovich, Jim;
- Burfoot, Rachel K.;
- Johnson, Laura J.;
- Huxtable, Stewart;
- Butzkueven, Helmut;
- Lin, Ling;
- Taylor, Bruce V.;
- Speed, Terence P.;
- Kilpatrick, Trevor J.;
- Mignot, Emmanuel;
- Foote, Simon J.
Publication type:
Article
Opioid Switch Dosing in Chronic Cancer Pain: A Prospective Longitudinal Study.
Published in:
Journal of Palliative Medicine, 2024, v. 27, n. 3, p. 388, doi. 10.1089/jpm.2023.0541
By:
- Wong, Aaron K.;
- Klepstad, Pal;
- Rubio, Justin P.;
- Somogyi, Andrew A.;
- Vogrin, Sara;
- Le, Brian;
- Philip, Jennifer
Publication type:
Article
Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.
Published in:
2018
By:
- Loesch, Danuta Z.;
- Tassone, Flora;
- Mellick, George D.;
- Horne, Malcolm;
- Rubio, Justin P.;
- Bui, Minh Q.;
- Francis, David;
- Storey, Elsdon
Publication type:
journal article
Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease.
Published in:
2007
By:
- Huang, Yue;
- Halliday, Glenda M.;
- Vandebona, Himesha;
- Mellick, George D.;
- Mastaglia, Frank;
- Stevens, Julia;
- Kwok, John;
- Garlepp, Michael;
- Silburn, Peter A.;
- Horne, Malcolm K.;
- Kotschet, Katya;
- Venn, Alison;
- Rowe, Dominic B.;
- Rubio, Justin P.;
- Sue, Carolyn M.
Publication type:
journal article
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Published in:
Movement Disorders, 2000, v. 15, n. 6, p. 1282, doi. 10.1002/1531-8257(200011)15:6<1282::AID-MDS1042>3.0.CO;2-2
By:
- Dotti, Maria Teresa;
- Battisti, Carla;
- Malandrini, Alessandro;
- Federico, Antonio;
- Rubio, Justin P.;
- Circiarello, Giuseppe;
- Monaco, Anthony P.
Publication type:
Article
Histamine Receptor 3 negatively regulates oligodendrocyte differentiation and remyelination.
Published in:
PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189380
By:
- Chen, Yongfeng;
- Zhen, Wei;
- Guo, Tony;
- Zhao, Yonggang;
- Liu, Ailian;
- Rubio, Justin P.;
- Krull, David;
- Richardson, Jill C.;
- Lu, Hongtao;
- Wang, Ryan
Publication type:
Article

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