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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: barcina mg. Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230722 Free PMC article.
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group. Del Giudice E, et al. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. Orphanet J Rare Dis. 2014. PMID: 24884629 Free PMC article.
Recommendations for the predictive genetic test in Huntington's disease.
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. MacLeod R, et al. Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. Clin Genet. 2013. PMID: 22642570 No abstract available.
Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection.
Vandenbroeck K, Alloza I, Swaminathan B, Antigüedad A, Otaegui D, Olascoaga J, Barcina MG, de las Heras V, Bartolomé M, Fernández-Arquero M, Arroyo R, Alvarez-Lafuente R, Cénit MC, Urcelay E. Vandenbroeck K, et al. Among authors: barcina mg. Genes Immun. 2011 Jan;12(1):40-5. doi: 10.1038/gene.2010.46. Epub 2010 Sep 23. Genes Immun. 2011. PMID: 20861862
Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain.
Swaminathan B, Matesanz F, Cavanillas ML, Alloza I, Otaegui D, Olascoaga J, Cénit MC, de las Heras V, Barcina MG, Arroyo R, Alcina A, Fernandez O, Antigüedad A, Urcelay E, Vandenbroeck K. Swaminathan B, et al. Among authors: barcina mg. J Neuroimmunol. 2010 Jun;223(1-2):100-3. doi: 10.1016/j.jneuroim.2010.03.020. Epub 2010 Apr 28. J Neuroimmunol. 2010. PMID: 20430450
Liver-associated lymphocytes: role in tumor defense.
Winnock M, Barcina MG, Lukomska B, Bioulac-Sage P, Balabaud C. Winnock M, et al. Among authors: barcina mg. Semin Liver Dis. 1993 Feb;13(1):81-92. doi: 10.1055/s-2007-1007340. Semin Liver Dis. 1993. PMID: 8446910 Review. No abstract available.