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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: macdonald me. 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.
A dinucleotide repeat polymorphism at the D4S127 locus.
Taylor SA, Barnes GT, MacDonald ME, Gusella JF. Taylor SA, et al. Among authors: macdonald me. Hum Mol Genet. 1992 May;1(2):142. doi: 10.1093/hmg/1.2.142-a. Hum Mol Genet. 1992. PMID: 1339471 No abstract available.
A recombination event that redefines the Huntington disease region.
Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF, et al. Snell RG, et al. Among authors: macdonald me. Am J Hum Genet. 1992 Aug;51(2):357-62. Am J Hum Genet. 1992. PMID: 1386495 Free PMC article.
Detection by PCR of a VNTR polymorphism at D4S43.
Horn GT, McClatchey AI, Richards B, MacDonald ME, Gusella JF. Horn GT, et al. Among authors: macdonald me. Nucleic Acids Res. 1991 Sep 11;19(17):4772. doi: 10.1093/nar/19.17.4772. Nucleic Acids Res. 1991. PMID: 1679922 Free PMC article.
MboI RFLP at the D4S43 (C4H) locus.
Lazarou LP, Snell RG, MacDonald ME, Gusella JF, Wasmuth JJ, Shaw DJ. Lazarou LP, et al. Among authors: macdonald me. Nucleic Acids Res. 1991 Oct 11;19(19):5445. doi: 10.1093/nar/19.19.5445-a. Nucleic Acids Res. 1991. PMID: 1681512 Free PMC article. No abstract available.
New DNA markers in the Huntington's disease gene candidate region.
Lin CS, Altherr M, Bates G, Whaley WL, Read AP, Harris R, Lehrach H, Wasmuth JJ, Gusella JF, MacDonald ME. Lin CS, et al. Among authors: macdonald me. Somat Cell Mol Genet. 1991 Sep;17(5):481-8. doi: 10.1007/BF01233172. Somat Cell Mol Genet. 1991. PMID: 1684879
429 results