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Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Among authors: biunno i. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington's Disease.
Vuono R, Kouli A, Legault EM, Chagnon L, Allinson KS, La Spada A; REGISTRY Investigators of the European Huntington's Disease Network; Biunno I, Barker RA, Drouin-Ouellet J. Vuono R, et al. Among authors: biunno i. Mov Disord. 2020 Mar;35(3):401-408. doi: 10.1002/mds.27911. Epub 2019 Nov 14. Mov Disord. 2020. PMID: 31724242 Free PMC article.
The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity.
Camnasio S, Delli Carri A, Lombardo A, Grad I, Mariotti C, Castucci A, Rozell B, Lo Riso P, Castiglioni V, Zuccato C, Rochon C, Takashima Y, Diaferia G, Biunno I, Gellera C, Jaconi M, Smith A, Hovatta O, Naldini L, Di Donato S, Feki A, Cattaneo E. Camnasio S, et al. Among authors: biunno i. Neurobiol Dis. 2012 Apr;46(1):41-51. doi: 10.1016/j.nbd.2011.12.042. Neurobiol Dis. 2012. PMID: 22405424
Systematic chromosomal analysis of cultured mouse neural stem cell lines.
Diaferia GR, Conti L, Redaelli S, Cattaneo M, Mutti C, DeBlasio P, Dalprà L, Cattaneo E, Biunno I. Diaferia GR, et al. Among authors: biunno i. Stem Cells Dev. 2011 Aug;20(8):1411-23. doi: 10.1089/scd.2010.0359. Epub 2011 Mar 12. Stem Cells Dev. 2011. PMID: 21275879
123 results