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Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium; Lee JM, McLean ZL, Correia K, Shin JW, Lee S, Jang JH, Lee Y, Kim KH, Choi DE, Long JD, Lucente D, Seong IS, Pinto RM, Giordano JV, Mysore JS, Siciliano J, Elezi E, Ruliera J, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, Gatseva A, Ciosi M, Lomeikaite V, Loay H, Monckton DG, Wills C, Massey TH, Jones L, Holmans P, Kwak S, Sampaio C, Orth M, Bernhard Landwehrmeyer G, Paulsen JS, Ray Dorsey E, Myers RH. Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, et al. Among authors: massey th. bioRxiv [Preprint]. 2024 Jun 18:2024.06.10.597797. doi: 10.1101/2024.06.10.597797. bioRxiv. 2024. PMID: 38948755 Free PMC article. Preprint.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Kim KH, et al. Among authors: massey th. Proc Natl Acad Sci U S A. 2024 Apr 16;121(16):e2322924121. doi: 10.1073/pnas.2322924121. Epub 2024 Apr 12. Proc Natl Acad Sci U S A. 2024. PMID: 38607933 Free PMC article.
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset.
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Electronic address: gusella@helix.mgh.harvard.edu; Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Electronic address: gusella@helix.mgh.harvard.edu, et al. Cell. 2019 Aug 8;178(4):887-900.e14. doi: 10.1016/j.cell.2019.06.036. Cell. 2019. PMID: 31398342 Free PMC article.
Using gene or cell therapies to treat Huntington's disease.
Binda CS, Lelos MJ, Rosser AE, Massey TH. Binda CS, et al. Among authors: massey th. Handb Clin Neurol. 2024;205:193-215. doi: 10.1016/B978-0-323-90120-8.00014-9. Handb Clin Neurol. 2024. PMID: 39341655 Review.
Recreational nitrous oxide and thrombotic events: a case series.
Patyjewicz M, Mair D, Zaloum SA, Onen B, Walton J, Dobson R, Joerres C, Shah AM, MacCallum P, Massey TH, Bariana T, White V, De Freitas SA, Noyce A. Patyjewicz M, et al. Among authors: massey th. BMJ Neurol Open. 2024 May 15;6(1):e000619. doi: 10.1136/bmjno-2023-000619. eCollection 2024. BMJ Neurol Open. 2024. PMID: 38757110 Free PMC article.
Modification of Huntington's disease by short tandem repeats.
Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM. Hong EP, et al. Among authors: massey th. Brain Commun. 2024 Jan 23;6(2):fcae016. doi: 10.1093/braincomms/fcae016. eCollection 2024. Brain Commun. 2024. PMID: 38449714 Free PMC article.
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Taylor AS, Barros D, Gobet N, Schuepbach T, McAllister B, Aeschbach L, Randall EL, Trofimenko E, Heuchan ER, Barszcz P, Ciosi M, Morgan J, Hafford-Tear NJ, Davidson AE, Massey TH, Monckton DG, Jones L, Network RIOTEHD, Xenarios I, Dion V. Taylor AS, et al. Among authors: massey th. NAR Genom Bioinform. 2022 Dec 5;4(4):lqac089. doi: 10.1093/nargab/lqac089. eCollection 2022 Dec. NAR Genom Bioinform. 2022. PMID: 36478959 Free PMC article.
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
Lobanov SV, McAllister B, McDade-Kumar M, Landwehrmeyer GB, Orth M, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Lee JM, MacDonald ME, Gusella JF, Long JD, Ryten M, Williams NM, Holmans P, Massey TH, Jones L. Lobanov SV, et al. Among authors: massey th. NPJ Genom Med. 2022 Sep 5;7(1):53. doi: 10.1038/s41525-022-00317-w. NPJ Genom Med. 2022. PMID: 36064847 Free PMC article.
43 results