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Page 1
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: landwehrmeyer gb. 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.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, 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, Landwehrmeyer GB; Registry Study of the European Huntington's Disease Network; Shoulson I; Huntington Study Group COHORT project; Myers RH, MacDonald ME, Gusella JF. Lee JH, et al. Among authors: landwehrmeyer gb. Biochem Biophys Res Commun. 2012 Aug 3;424(3):404-8. doi: 10.1016/j.bbrc.2012.06.120. Epub 2012 Jul 3. Biochem Biophys Res Commun. 2012. PMID: 22771793 Free PMC article.
Compensation in Preclinical Huntington's Disease: Evidence From the Track-On HD Study.
Klöppel S, Gregory S, Scheller E, Minkova L, Razi A, Durr A, Roos RA, Leavitt BR, Papoutsi M, Landwehrmeyer GB, Reilmann R, Borowsky B, Johnson H, Mills JA, Owen G, Stout J, Scahill RI, Long JD, Rees G, Tabrizi SJ; Track-On investigators. Klöppel S, et al. Among authors: landwehrmeyer gb. EBioMedicine. 2015 Aug 4;2(10):1420-9. doi: 10.1016/j.ebiom.2015.08.002. eCollection 2015 Oct. EBioMedicine. 2015. PMID: 26629536 Free PMC article.
Identification of extreme motor phenotypes in Huntington's disease.
Braisch U, Hay B, Muche R, Rothenbacher D, Landwehrmeyer GB, Long JD, Orth M; REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group. Braisch U, et al. Among authors: landwehrmeyer gb. Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):283-294. doi: 10.1002/ajmg.b.32514. Epub 2016 Nov 21. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 27868347
Identification of symbol digit modality test score extremes in Huntington's disease.
Braisch U, Muche R, Rothenbacher D, Landwehrmeyer GB, Long JD, Orth M; REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group. Braisch U, et al. Among authors: landwehrmeyer gb. Am J Med Genet B Neuropsychiatr Genet. 2019 Apr;180(3):232-245. doi: 10.1002/ajmg.b.32719. Epub 2019 Feb 20. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30788902
Targeting Huntingtin Expression in Patients with Huntington's Disease.
Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA, Baumann T, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM; Phase 1–2a IONIS-HTTRx Study Site Teams. Tabrizi SJ, et al. Among authors: landwehrmeyer gb. N Engl J Med. 2019 Jun 13;380(24):2307-2316. doi: 10.1056/NEJMoa1900907. Epub 2019 May 6. N Engl J Med. 2019. PMID: 31059641 Clinical Trial.
179 results