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Page 1
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF. Lee JM, et al. Among authors: ciosi m. Am J Hum Genet. 2022 May 5;109(5):885-899. doi: 10.1016/j.ajhg.2022.03.004. Epub 2022 Mar 23. Am J Hum Genet. 2022. PMID: 35325614 Free PMC article.
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.
Ciosi M, Maxwell A, Cumming SA, Hensman Moss DJ, Alshammari AM, Flower MD, Durr A, Leavitt BR, Roos RAC; TRACK-HD team; Enroll-HD team; Holmans P, Jones L, Langbehn DR, Kwak S, Tabrizi SJ, Monckton DG. Ciosi M, et al. EBioMedicine. 2019 Oct;48:568-580. doi: 10.1016/j.ebiom.2019.09.020. Epub 2019 Oct 10. EBioMedicine. 2019. PMID: 31607598 Free PMC article.
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, MacDonald ME, Lee JM, Gusella JF, Jones L, Holmans P. Ellis N, et al. Among authors: ciosi m. Biol Psychiatry. 2020 May 1;87(9):857-865. doi: 10.1016/j.biopsych.2019.12.010. Epub 2019 Dec 17. Biol Psychiatry. 2020. PMID: 32087949 Free PMC article.
DNA methylation study of Huntington's disease and motor progression in patients and in animal models.
Lu AT, Narayan P, Grant MJ, Langfelder P, Wang N, Kwak S, Wilkinson H, Chen RZ, Chen J, Simon Bawden C, Rudiger SR, Ciosi M, Chatzi A, Maxwell A, Hore TA, Aaronson J, Rosinski J, Preiss A, Vogt TF, Coppola G, Monckton D, Snell RG, William Yang X, Horvath S. Lu AT, et al. Among authors: ciosi m. Nat Commun. 2020 Sep 10;11(1):4529. doi: 10.1038/s41467-020-18255-5. Nat Commun. 2020. PMID: 32913184 Free PMC article.
Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.
Hong EP, Chao MJ, Massey T, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Hong EP, et al. Among authors: ciosi m. J Huntingtons Dis. 2021;10(3):367-375. doi: 10.3233/JHD-210485. J Huntingtons Dis. 2021. PMID: 34180418 Free PMC article.
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH. McAllister B, et al. Among authors: ciosi m. Nat Neurosci. 2022 Apr;25(4):446-457. doi: 10.1038/s41593-022-01033-5. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379994 Free PMC article.
Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.
Ruiz de Sabando A, Urrutia Lafuente E, Galbete A, Ciosi M, García Amigot F, García Solaesa V; Spanish HD Collaborative group; Monckton DG, Ramos-Arroyo MA. Ruiz de Sabando A, et al. Among authors: ciosi m. Hum Mol Genet. 2023 Mar 6;32(6):897-906. doi: 10.1093/hmg/ddac224. Hum Mol Genet. 2023. PMID: 36130218 Free PMC article.
25 results