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Page 1
A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.
Ban M, McCauley JL, Zuvich R, Baker A, Bergamaschi L, Cox M, Kemppinen A, D'Alfonso S, Guerini FR, Lechner-Scott J, Dudbridge F, Wason J, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, Sexton D, Oksenberg JR, Hauser SL, Pericak-Vance MA, Haines J, Compston A, Sawcer S. Ban M, et al. Among authors: kemppinen a. Genes Immun. 2010 Dec;11(8):660-4. doi: 10.1038/gene.2010.36. Epub 2010 Jun 24. Genes Immun. 2010. PMID: 20574445 Free PMC article.
MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, Ortiz MA, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen JT, Fernández Ó, Gerdes LA, Guillot-Noël L, Hartung HP, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li SC, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes LF, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl UK, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F. International Multiple Sclerosis Genetics Consortium, et al. Among authors: kemppinen a. Brain. 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101. Brain. 2013. PMID: 23739915 Free PMC article.
A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility.
Damotte V, Guillot-Noel L, Patsopoulos NA, Madireddy L, El Behi M; International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2; De Jager PL, Baranzini SE, Cournu-Rebeix I, Fontaine B. Damotte V, et al. Genes Immun. 2014 Mar;15(2):126-32. doi: 10.1038/gene.2013.70. Epub 2014 Jan 16. Genes Immun. 2014. PMID: 24430173 Free article.
Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC); Booth DR, Heard RN, Stewart GJ, Cox M, Scott RJ, Lechner-Scott J, Goris A, Dobosi R, Dubois B, Saarela J, Leppä V, Peltonen L, Pirttila T, Cournu-Rebeix I, Fontaine B, Bergamaschi L, D'Alfonso S, Leone M, Lorentzen AR, Harbo HF, Celius EG, Spurkland A, Link J, Kockum I, Olsson T, Hillert J, Ban M, Baker A, Kemppinen A, Sawcer S, Compston A, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, McCauley JL, Pericak-Vance MA, Oksenberg JR, Hauser SL, Sexton D, Haines J. International Multiple Sclerosis Genetics Consortium (IMSGC), et al. Among authors: kemppinen a. Nat Genet. 2010 Jun;42(6):469-70; author reply 470-1. doi: 10.1038/ng0610-469. Nat Genet. 2010. PMID: 20502484 Free PMC article. No abstract available.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2; Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi … See abstract for full author list ➔ International Multiple Sclerosis Genetics Consortium, et al. Among authors: kemppinen a. Nature. 2011 Aug 10;476(7359):214-9. doi: 10.1038/nature10251. Nature. 2011. PMID: 21833088 Free PMC article.
Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
Winder-Rhodes SE, Garcia-Reitböck P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG. Winder-Rhodes SE, et al. Among authors: kemppinen a. Mov Disord. 2012 Feb;27(2):312-5. doi: 10.1002/mds.24029. Epub 2011 Nov 18. Mov Disord. 2012. PMID: 22102531
A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis.
Mechelli R, Umeton R, Policano C, Annibali V, Coarelli G, Ricigliano VA, Vittori D, Fornasiero A, Buscarinu MC; International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium,2; Romano S, Salvetti M, Ristori G. Mechelli R, et al. PLoS One. 2013 May 16;8(5):e63300. doi: 10.1371/journal.pone.0063300. Print 2013. PLoS One. 2013. PMID: 23696811 Free PMC article.
40 results