Harvard Catalyst Profiles

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Marcy Elizabeth MacDonald, Ph.D.

Co-Author

This page shows the publications co-authored by Marcy MacDonald and James Gusella.
Connection Strength

10.648
  1. Gusella JF, MacDonald ME. Huntington's disease: the case for genetic modifiers. Genome Med. 2009 Aug 21; 1(8):80.
    View in: PubMed
    Score: 0.461
  2. Gusella JF, MacDonald ME. Expanding the notion of disease in Huntington's disease. Biol Psychiatry. 2007 Dec 15; 62(12):1340.
    View in: PubMed
    Score: 0.410
  3. Gusella JF, Macdonald M. Genetic criteria for Huntington's disease pathogenesis. Brain Res Bull. 2007 Apr 30; 72(2-3):78-82.
    View in: PubMed
    Score: 0.381
  4. Gusella JF, MacDonald ME. Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci. 2006 Sep; 31(9):533-40.
    View in: PubMed
    Score: 0.372
  5. Gusella J, MacDonald M. No post-genetics era in human disease research. Nat Rev Genet. 2002 Jan; 3(1):72-9.
    View in: PubMed
    Score: 0.272
  6. Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci. 2000 Nov; 1(2):109-15.
    View in: PubMed
    Score: 0.251
  7. Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME. Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out. Hum Mol Genet. 2020 Sep 02.
    View in: PubMed
    Score: 0.248
  8. Gusella JF, MacDonald ME. Huntingtin: a single bait hooks many species. Curr Opin Neurobiol. 1998 Jun; 8(3):425-30.
    View in: PubMed
    Score: 0.212
  9. Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF. A modifier of Huntington's disease onset at the MLH1 locus. Hum Mol Genet. 2017 10 01; 26(19):3859-3867.
    View in: PubMed
    Score: 0.202
  10. Gusella JF, Persichetti F, MacDonald ME. The genetic defect causing Huntington's disease: repeated in other contexts? Mol Med. 1997 Apr; 3(4):238-46.
    View in: PubMed
    Score: 0.195
  11. MacDonald ME, Gusella JF. Huntington's disease: translating a CAG repeat into a pathogenic mechanism. Curr Opin Neurobiol. 1996 Oct; 6(5):638-43.
    View in: PubMed
    Score: 0.189
  12. Gusella JF, MacDonald ME. Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med. 1996; 47:201-9.
    View in: PubMed
    Score: 0.179
  13. Gusella JF, McNeil S, Persichetti F, Srinidhi J, Novelletto A, Bird E, Faber P, Vonsattel JP, Myers RH, MacDonald ME. Huntington's disease. Cold Spring Harb Symp Quant Biol. 1996; 61:615-26.
    View in: PubMed
    Score: 0.179
  14. Gusella JF, MacDonald ME. Huntington's disease: CAG genetics expands neurobiology. Curr Opin Neurobiol. 1995 Oct; 5(5):656-62.
    View in: PubMed
    Score: 0.176
  15. Lee JM, Kim KH, Shin A, Chao MJ, Abu Elneel K, Gillis T, Mysore JS, Kaye JA, Zahed H, Kratter IH, Daub AC, Finkbeiner S, Li H, Roach JC, Goodman N, Hood L, Myers RH, MacDonald ME, Gusella JF. Sequence-Level Analysis of the Major European Huntington Disease Haplotype. Am J Hum Genet. 2015 Sep 03; 97(3):435-44.
    View in: PubMed
    Score: 0.175
  16. Gusella JF, MacDonald ME. Huntington's disease. Semin Cell Biol. 1995 Feb; 6(1):21-8.
    View in: PubMed
    Score: 0.168
  17. Gusella JF, MacDonald ME, Lee JM. Genetic modifiers of Huntington's disease. Mov Disord. 2014 Sep 15; 29(11):1359-65.
    View in: PubMed
    Score: 0.163
  18. Gusella JF, MacDonald ME. Huntington's disease and repeating trinucleotides. N Engl J Med. 1994 May 19; 330(20):1450-1.
    View in: PubMed
    Score: 0.160
  19. Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, 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, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 2013 Nov; 14(3-4):173-9.
    View in: PubMed
    Score: 0.149
  20. Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, Gusella JF, MacDonald ME. Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy. Hum Mol Genet. 2013 Aug 15; 22(16):3227-38.
    View in: PubMed
    Score: 0.149
  21. Gusella JF, MacDonald ME. Hunting for Huntington's disease. Mol Genet Med. 1993; 3:139-58.
    View in: PubMed
    Score: 0.146
  22. Aziz NA, Roos RA, Gusella JF, Lee JM, Macdonald ME. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Aug 28; 79(9):952; author reply 952-3.
    View in: PubMed
    Score: 0.142
  23. Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, 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, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset. Hum Genet. 2012 Dec; 131(12):1833-40.
    View in: PubMed
    Score: 0.141
  24. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
    View in: PubMed
    Score: 0.141
  25. 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, Shoulson I, Myers RH, MacDonald ME, Gusella JF. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun. 2012 Aug 03; 424(3):404-8.
    View in: PubMed
    Score: 0.141
  26. Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, 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, MacDonald ME, Gusella JF. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet. 2012 Mar 09; 90(3):434-44.
    View in: PubMed
    Score: 0.137
  27. MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, Wasmuth J, Gusella JF. Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet. 1991 Oct; 49(4):723-34.
    View in: PubMed
    Score: 0.133
  28. MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet. 1991 Jul; 17(4):421-5.
    View in: PubMed
    Score: 0.131
  29. Myre MA, Lumsden AL, Thompson MN, Wasco W, MacDonald ME, Gusella JF. Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum. PLoS Genet. 2011 Apr; 7(4):e1002052.
    View in: PubMed
    Score: 0.130
  30. Perlis RH, Smoller JW, Mysore J, Sun M, Gillis T, Purcell S, Rietschel M, Nöthen MM, Witt S, Maier W, Iosifescu DV, Sullivan P, Rush AJ, Fava M, Breiter H, Macdonald M, Gusella J. Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry. 2010 May; 167(5):574-9.
    View in: PubMed
    Score: 0.120
  31. Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, MacDonald ME. Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet. 2010 Feb 15; 19(4):573-83.
    View in: PubMed
    Score: 0.117
  32. Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan; 82(1):199-207.
    View in: PubMed
    Score: 0.103
  33. MacDonald ME, Anderson MA, Lockyer JL, Milstien S, Hobbs WJ, Faryniarz AG, Kaufman S, Ledley FD, Woo SL, Gusella JF. Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. Somat Cell Mol Genet. 1987 Sep; 13(5):569-74.
    View in: PubMed
    Score: 0.101
  34. MacDonald ME, Anderson MA, Gilliam TC, Tranejaerg L, Carpenter NJ, Magenis E, Hayden MR, Healey ST, Bonner TI, Gusella JF. A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics. 1987 Sep; 1(1):29-34.
    View in: PubMed
    Score: 0.101
  35. Lee JM, Ivanova EV, Seong IS, Cashorali T, Kohane I, Gusella JF, MacDonald ME. Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet. 2007 Aug; 3(8):e135.
    View in: PubMed
    Score: 0.099
  36. Kim HG, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Candidate loci for Zimmermann-Laband syndrome at 3p14.3. . 2007 Jan 15; 143A(2):107-11.
    View in: PubMed
    Score: 0.096
  37. Zeng W, Gillis T, Hakky M, Djoussé L, Myers RH, MacDonald ME, Gusella JF. Genetic analysis of the GRIK2 modifier effect in Huntington's disease. BMC Neurosci. 2006 Sep 07; 7:62.
    View in: PubMed
    Score: 0.094
  38. Kishikawa S, Li JL, Gillis T, Hakky MM, Warby S, Hayden M, MacDonald ME, Myers RH, Gusella JF. Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease. Neurobiol Dis. 2006 Nov; 24(2):280-5.
    View in: PubMed
    Score: 0.094
  39. Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006 Jun; 63(6):826-32.
    View in: PubMed
    Score: 0.092
  40. Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME. HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum Mol Genet. 2005 Oct 01; 14(19):2871-80.
    View in: PubMed
    Score: 0.087
  41. Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
    View in: PubMed
    Score: 0.087
  42. Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005 Jul; 77(1):16-26.
    View in: PubMed
    Score: 0.086
  43. Wang J, Gines S, MacDonald ME, Gusella JF. Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci. 2005 Jan 13; 6:1.
    View in: PubMed
    Score: 0.084
  44. Gines S, Seong IS, Fossale E, Ivanova E, Trettel F, Gusella JF, Wheeler VC, Persichetti F, MacDonald ME. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet. 2003 Mar 01; 12(5):497-508.
    View in: PubMed
    Score: 0.074
  45. MacDonald ME, Gines S, Gusella JF, Wheeler VC. Huntington's disease. Neuromolecular Med. 2003; 4(1-2):7-20.
    View in: PubMed
    Score: 0.073
  46. Wheeler VC, Gutekunst CA, Vrbanac V, Lebel LA, Schilling G, Hersch S, Friedlander RM, Gusella JF, Vonsattel JP, Borchelt DR, MacDonald ME. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet. 2002 Mar 15; 11(6):633-40.
    View in: PubMed
    Score: 0.069
  47. Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME. Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. Hum Mol Genet. 2000 Sep 01; 9(14):2175-82.
    View in: PubMed
    Score: 0.062
  48. Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM. Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. Am J Hum Genet. 2020 07 02; 107(1):96-110.
    View in: PubMed
    Score: 0.061
  49. Wheeler VC, White JK, Gutekunst CA, Vrbanac V, Weaver M, Li XJ, Li SH, Yi H, Vonsattel JP, Gusella JF, Hersch S, Auerbach W, Joyner AL, MacDonald ME. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet. 2000 Mar 01; 9(4):503-13.
    View in: PubMed
    Score: 0.060
  50. MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, Gusella JF, Myers RH. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology. 1999 Oct 12; 53(6):1330-2.
    View in: PubMed
    Score: 0.058
  51. Persichetti F, Trettel F, Huang CC, Fraefel C, Timmers HT, Gusella JF, MacDonald ME. Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment. Neurobiol Dis. 1999 Oct; 6(5):364-75.
    View in: PubMed
    Score: 0.058
  52. Kim KH, Abu Elneel K, Shin JW, Keum JW, Seong D, Kwak S, Lee R, Gusella JF, MacDonald ME, Seong IS, Lee JM. Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA. J Hum Genet. 2019 Oct; 64(10):995-1004.
    View in: PubMed
    Score: 0.057
  53. Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M. Hypomorphic mutation of the mouse Huntington's disease gene orthologue. PLoS Genet. 2019 03; 15(3):e1007765.
    View in: PubMed
    Score: 0.056
  54. Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach A, Ryan A, Duyao MP, Vrbanac V, Weaver M, Gusella JF, Joyner AL, MacDonald ME. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet. 1999 Jan; 8(1):115-22.
    View in: PubMed
    Score: 0.055
  55. Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME. Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet. 1998 Sep; 7(9):1463-74.
    View in: PubMed
    Score: 0.054
  56. Huang CC, Faber PW, Persichetti F, Mittal V, Vonsattel JP, MacDonald ME, Gusella JF. Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Somat Cell Mol Genet. 1998 Jul; 24(4):217-33.
    View in: PubMed
    Score: 0.053
  57. Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genet. 2018 05; 14(5):e1007274.
    View in: PubMed
    Score: 0.053
  58. White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec; 17(4):404-10.
    View in: PubMed
    Score: 0.051
  59. Pribill I, Barnes GT, Chen J, Church D, Buckler A, Baxendale S, Bates GP, Lehrach H, Gusella MJ, Duyao MP, Ambrose CM, Gusella JF, MacDonald ME. Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3. Somat Cell Mol Genet. 1997 Nov; 23(6):413-27.
    View in: PubMed
    Score: 0.051
  60. Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Haplotype-based stratification of Huntington's disease. Eur J Hum Genet. 2017 11; 25(11):1202-1209.
    View in: PubMed
    Score: 0.050
  61. Shin A, Shin B, Shin JW, Kim KH, Atwal RS, Hope JM, Gillis T, Leszyk JD, Shaffer SA, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS, Lee JM. Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels. Hum Mol Genet. 2017 04 01; 26(7):1258-1267.
    View in: PubMed
    Score: 0.049
  62. Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM. Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 10 15; 25(20):4566-4576.
    View in: PubMed
    Score: 0.047
  63. Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM. Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 Sep 15.
    View in: PubMed
    Score: 0.047
  64. Keum JW, Shin A, Gillis T, Mysore JS, Abu Elneel K, Lucente D, Hadzi T, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet. 2016 Feb 04; 98(2):287-98.
    View in: PubMed
    Score: 0.045
  65. MacDonald ME, Duyao M, Calzonetti T, Auerbach A, Ryan A, Barnes G, White JK, Auerbach W, Vonsattel JP, Gusella JF, Joyner AL. Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. Cold Spring Harb Symp Quant Biol. 1996; 61:627-38.
    View in: PubMed
    Score: 0.045
  66. Persichetti F, Carlee L, Faber PW, McNeil SM, Ambrose CM, Srinidhi J, Anderson M, Barnes GT, Gusella JF, MacDonald ME. Differential expression of normal and mutant Huntington's disease gene alleles. Neurobiol Dis. 1996; 3(3):183-90.
    View in: PubMed
    Score: 0.045
  67. Labadorf A, Hoss AG, Lagomarsino V, Latourelle JC, Hadzi TC, Bregu J, MacDonald ME, Gusella JF, Chen JF, Akbarian S, Weng Z, Myers RH. RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. PLoS One. 2015; 10(12):e0143563.
    View in: PubMed
    Score: 0.045
  68. Leeflang EP, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF, et al. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet. 1995 Sep; 4(9):1519-26.
    View in: PubMed
    Score: 0.044
  69. Hoss AG, Labadorf A, Latourelle JC, Kartha VK, Hadzi TC, Gusella JF, MacDonald ME, Chen JF, Akbarian S, Weng Z, Vonsattel JP, Myers RH. miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement. BMC Med Genomics. 2015 Mar 01; 8:10.
    View in: PubMed
    Score: 0.042
  70. Ramos EM, Gillis T, Mysore JS, Lee JM, Alonso I, Gusella JF, Smoller JW, Sklar P, MacDonald ME, Perlis RH. Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Bipolar Disord. 2015 Jun; 17(4):403-8.
    View in: PubMed
    Score: 0.042
  71. Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I. Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. . 2015 Mar; 168B(2):135-43.
    View in: PubMed
    Score: 0.042
  72. Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS. Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Hum Mol Genet. 2015 May 01; 24(9):2442-57.
    View in: PubMed
    Score: 0.042
  73. Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease. J Huntingtons Dis. 2015; 4(3):279-84.
    View in: PubMed
    Score: 0.042
  74. Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF, et al. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis. 1994 Dec; 1(3):159-66.
    View in: PubMed
    Score: 0.042
  75. Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J, et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet. 1994 Nov; 31(11):872-4.
    View in: PubMed
    Score: 0.041
  76. Dietz KN, Di Stefano L, Maher RC, Zhu H, Macdonald ME, Gusella JF, Walker JA. The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development. Hum Mol Genet. 2015 Jan 15; 24(2):330-45.
    View in: PubMed
    Score: 0.041
  77. Grosson CL, MacDonald ME, Duyao MP, Ambrose CM, Roffler-Tarlov S, Gusella JF. Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5. Mamm Genome. 1994 Jul; 5(7):424-8.
    View in: PubMed
    Score: 0.040
  78. Galkina EI, Shin A, Coser KR, Shioda T, Kohane IS, Seong IS, Wheeler VC, Gusella JF, Macdonald ME, Lee JM. HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes. PLoS One. 2014; 9(4):e95556.
    View in: PubMed
    Score: 0.040
  79. MacCollin M, Peterfreund R, MacDonald M, Fink JS, Gusella J. Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22. Genomics. 1994 Mar 15; 20(2):332-3.
    View in: PubMed
    Score: 0.040
  80. Barnes GT, Duyao MP, Ambrose CM, McNeil S, Persichetti F, Srinidhi J, Gusella JF, MacDonald ME. Mouse Huntington's disease gene homolog (Hdh). Somat Cell Mol Genet. 1994 Mar; 20(2):87-97.
    View in: PubMed
    Score: 0.039
  81. Hoss AG, Kartha VK, Dong X, Latourelle JC, Dumitriu A, Hadzi TC, Macdonald ME, Gusella JF, Akbarian S, Chen JF, Weng Z, Myers RH. MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis. PLoS Genet. 2014 Feb; 10(2):e1004188.
    View in: PubMed
    Score: 0.039
  82. Thompson MN, MacDonald ME, Gusella JF, Myre MA. Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. J Huntingtons Dis. 2014; 3(3):261-71.
    View in: PubMed
    Score: 0.039
  83. Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Pergola M, Del Senno L, MacDonald ME, Gusella JF, et al. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet. 1994 Jan; 3(1):93-8.
    View in: PubMed
    Score: 0.039
  84. Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M, Wasmuth J, Buckler A, Church D, Housman D, Berks M, Micklem G, Durbin R, Dodge A, Read A, Gusella J, MacDonald ME. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Mol Genet. 1994 01; 20(1):27-38.
    View in: PubMed
    Score: 0.039
  85. Gusella JF, MacDonald ME, Ambrose CM, Duyao MP. Molecular genetics of Huntington's disease. Arch Neurol. 1993 Nov; 50(11):1157-63.
    View in: PubMed
    Score: 0.039
  86. Myers RH, MacDonald ME, Gusella JF. Discrepancy resolved. Nat Genet. 1993 Nov; 5(3):215.
    View in: PubMed
    Score: 0.039
  87. Locke PA, MacDonald ME, Srinidhi J, Gilliam TC, Tanzi RE, Conneally PM, Wexler NS, Haines JL, Gusella JF. A genetic linkage map of the chromosome 4 short arm. Somat Cell Mol Genet. 1993 Jan; 19(1):95-101.
    View in: PubMed
    Score: 0.036
  88. Reid SJ, Patassini S, Handley RR, Rudiger SR, McLaughlan CJ, Osmand A, Jacobsen JC, Morton AJ, Weiss A, Waldvogel HJ, MacDonald ME, Gusella JF, Bawden CS, Faull RL, Snell RG. Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. J Huntingtons Dis. 2013; 2(3):279-95.
    View in: PubMed
    Score: 0.036
  89. Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 07; 91(6):1128-34.
    View in: PubMed
    Score: 0.036
  90. Allitto BA, McClatchey AI, Barnes G, Altherr M, Wasmuth J, Frischauf AM, MacDonald ME, Gusella J. Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4. Mol Cell Probes. 1992 Dec; 6(6):513-20.
    View in: PubMed
    Score: 0.036
  91. Hadzi TC, Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Gillis T, Mysore JS, Gusella JF, MacDonald ME, Myers RH, Vonsattel JP. Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology. 2012 Oct 16; 79(16):1708-15.
    View in: PubMed
    Score: 0.036
  92. Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF, et al. The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. Genomics. 1992 Oct; 14(2):350-6.
    View in: PubMed
    Score: 0.036
  93. Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF, et al. A recombination event that redefines the Huntington disease region. Am J Hum Genet. 1992 Aug; 51(2):357-62.
    View in: PubMed
    Score: 0.035
  94. Taylor SA, Barnes GT, MacDonald ME, Gusella JF. A dinucleotide repeat polymorphism at the D4S127 locus. Hum Mol Genet. 1992 May; 1(2):142.
    View in: PubMed
    Score: 0.035
  95. Ramos EM, Keagle P, Gillis T, Lowe P, Mysore JS, Leclerc AL, Ratti A, Ticozzi N, Gellera C, Gusella JF, Silani V, Alonso I, Brown RH, MacDonald ME, Landers JE. Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler. 2012 May; 13(3):265-9.
    View in: PubMed
    Score: 0.034
  96. Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Mar 04; 44(4):390-7, S1.
    View in: PubMed
    Score: 0.034
  97. 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, Landwehrmeyer GB, Myers RH, MacDonald ME, Gusella JF. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 06; 78(10):690-5.
    View in: PubMed
    Score: 0.034
  98. Ambrose C, Cheng S, Fontaine B, Nadeau JH, MacDonald M, Gusella JF. The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11. Mamm Genome. 1992; 3(3):151-5.
    View in: PubMed
    Score: 0.034
  99. Horn GT, McClatchey AI, Richards B, MacDonald ME, Gusella JF. Detection by PCR of a VNTR polymorphism at D4S43. Nucleic Acids Res. 1991 Sep 11; 19(17):4772.
    View in: PubMed
    Score: 0.033
  100. Lin CS, Altherr M, Bates G, Whaley WL, Read AP, Harris R, Lehrach H, Wasmuth JJ, Gusella JF, MacDonald ME. New DNA markers in the Huntington's disease gene candidate region. Somat Cell Mol Genet. 1991 Sep; 17(5):481-8.
    View in: PubMed
    Score: 0.033
  101. Fossale E, Seong IS, Coser KR, Shioda T, Kohane IS, Wheeler VC, Gusella JF, MacDonald ME, Lee JM. Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet. 2011 Nov 01; 20(21):4258-67.
    View in: PubMed
    Score: 0.033
  102. Jacobsen JC, Gregory GC, Woda JM, Thompson MN, Coser KR, Murthy V, Kohane IS, Gusella JF, Seong IS, MacDonald ME, Shioda T, Lee JM. HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet. 2011 Jul 15; 20(14):2846-60.
    View in: PubMed
    Score: 0.032
  103. Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK. Meclizine is neuroprotective in models of Huntington's disease. Hum Mol Genet. 2011 Jan 15; 20(2):294-300.
    View in: PubMed
    Score: 0.031
  104. Bates GP, MacDonald ME, Baxendale S, Sedlacek Z, Youngman S, Romano D, Whaley WL, Allitto BA, Poustka A, Gusella JF, et al. A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet. 1990 Apr; 46(4):762-75.
    View in: PubMed
    Score: 0.030
  105. Lee JM, Zhang J, Su AI, Walker JR, Wiltshire T, Kang K, Dragileva E, Gillis T, Lopez ET, Boily MJ, Cyr M, Kohane I, Gusella JF, MacDonald ME, Wheeler VC. A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol. 2010 Mar 19; 4:29.
    View in: PubMed
    Score: 0.030
  106. Jacobsen JC, Bawden CS, Rudiger SR, McLaughlan CJ, Reid SJ, Waldvogel HJ, MacDonald ME, Gusella JF, Walker SK, Kelly JM, Webb GC, Faull RL, Rees MI, Snell RG. An ovine transgenic Huntington's disease model. Hum Mol Genet. 2010 May 15; 19(10):1873-82.
    View in: PubMed
    Score: 0.030
  107. Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf AM, Wasmuth JJ, Gusella JF, et al. A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene. Genomics. 1989 Nov; 5(4):802-9.
    View in: PubMed
    Score: 0.029
  108. Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Wheeler V, MacDonald ME, Gusella JF, Myers RH. Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). . 2009 Jul; 149A(7):1375-81.
    View in: PubMed
    Score: 0.029
  109. McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 2008 Aug 15; 23(11):1596-601.
    View in: PubMed
    Score: 0.027
  110. Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22.
    View in: PubMed
    Score: 0.026
  111. Wheeler VC, Persichetti F, McNeil SM, Mysore JS, Mysore SS, MacDonald ME, Myers RH, Gusella JF, Wexler NS. Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet. 2007 Nov; 44(11):695-701.
    View in: PubMed
    Score: 0.025
  112. Gilliam TC, Healey ST, MacDonald ME, Stewart GD, Wasmuth JJ, Tanzi RE, Roy JC, Gusella JF. Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res. 1987 Feb 25; 15(4):1445-58.
    View in: PubMed
    Score: 0.024
  113. Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 2006 Dec 26; 67(12):2206-10.
    View in: PubMed
    Score: 0.024
  114. Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS, Cardon LR, Gusella JF, MacDonald ME, Myers RH, Housman DE, Wexler NS. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet. 2007 May; 71(Pt 3):295-301.
    View in: PubMed
    Score: 0.024
  115. Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djoussé L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet. 2006 Aug 17; 7:71.
    View in: PubMed
    Score: 0.023
  116. Gusella JF, Gilliam TC, Tanzi RE, MacDonald ME, Cheng SV, Wallace M, Haines J, Conneally PM, Wexler NS. Molecular genetics of Huntington's disease. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:359-64.
    View in: PubMed
    Score: 0.022
  117. Djoussé L, Knowlton B, Hayden MR, Almqvist EW, Brinkman RR, Ross CA, Margolis RL, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo Cabrero D, Jones R, Zanko A, Nance M, Abramson RK, Suchowersky O, Paulsen JS, Harrison MB, Yang Q, Cupples LA, Mysore J, Gusella JF, MacDonald ME, Myers RH. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics. 2004 Jun; 5(2):109-14.
    View in: PubMed
    Score: 0.020
  118. Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS, Landwehrmeyer B. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A. 2004 Mar 09; 101(10):3498-503.
    View in: PubMed
    Score: 0.020
  119. Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dodé C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gómez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djoussé L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples LA, Saint-Hilaire M, Cha JH, Hersch SM, Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet. 2003 Sep; 73(3):682-7.
    View in: PubMed
    Score: 0.019
  120. Djoussé L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. . 2003 Jun 15; 119A(3):279-82.
    View in: PubMed
    Score: 0.019
  121. Fossale E, Wheeler VC, Vrbanac V, Lebel LA, Teed A, Mysore JS, Gusella JF, MacDonald ME, Persichetti F. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum Mol Genet. 2002 Sep 15; 11(19):2233-41.
    View in: PubMed
    Score: 0.018
  122. DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet. 2002 May; 70(5):1089-95.
    View in: PubMed
    Score: 0.017
  123. DeStefano AL, Golbe LI, Mark MH, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 2001 Sep 25; 57(6):1124-6.
    View in: PubMed
    Score: 0.017
  124. Gómez-Tortosa E, MacDonald ME, Friend JC, Taylor SA, Weiler LJ, Cupples LA, Srinidhi J, Gusella JF, Bird ED, Vonsattel JP, Myers RH. Quantitative neuropathological changes in presymptomatic Huntington's disease. Ann Neurol. 2001 Jan; 49(1):29-34.
    View in: PubMed
    Score: 0.016
  125. Leeflang EP, Tavaré S, Marjoram P, Neal CO, Srinidhi J, MacFarlane H, MacDonald ME, Gusella JF, de Young M, Wexler NS, Arnheim N. Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum Mol Genet. 1999 Feb; 8(2):173-83.
    View in: PubMed
    Score: 0.014
  126. Ferrante RJ, Gutekunst CA, Persichetti F, McNeil SM, Kowall NW, Gusella JF, MacDonald ME, Beal MF, Hersch SM. Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. J Neurosci. 1997 May 01; 17(9):3052-63.
    View in: PubMed
    Score: 0.012
  127. Penney JB, Vonsattel JP, MacDonald ME, Gusella JF, Myers RH. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol. 1997 May; 41(5):689-92.
    View in: PubMed
    Score: 0.012
  128. McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH. Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet. 1997 May; 6(5):775-9.
    View in: PubMed
    Score: 0.012
  129. Kosinski CM, Cha JH, Young AB, Persichetti F, MacDonald M, Gusella JF, Penney JB, Standaert DG. Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons. Exp Neurol. 1997 Apr; 144(2):239-47.
    View in: PubMed
    Score: 0.012
  130. Vonsattel JP, Aizawa H, Ge P, DiFiglia M, McKee AC, MacDonald M, Gusella JF, Landwehrmeyer GB, Bird ED, Richardson EP, et al. An improved approach to prepare human brains for research. J Neuropathol Exp Neurol. 1995 Jan; 54(1):42-56.
    View in: PubMed
    Score: 0.010
  131. Hubert R, MacDonald M, Gusella J, Arnheim N. High resolution localization of recombination hot spots using sperm typing. Nat Genet. 1994 Jul; 7(3):420-4.
    View in: PubMed
    Score: 0.010
  132. Hummerich H, Baxendale S, Mott R, Kirby SF, MacDonald ME, Gusella J, Lehrach H, Bates GP. Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene. Hum Mol Genet. 1994 Jan; 3(1):73-8.
    View in: PubMed
    Score: 0.010
  133. Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug; 4(4):393-7.
    View in: PubMed
    Score: 0.009
  134. Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, MacDonald ME, Gusella JF, Collins FS. Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. Hum Mol Genet. 1993 Apr; 2(4):489.
    View in: PubMed
    Score: 0.009
  135. Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A. Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet. 1993 Apr 01; 46(1):72-6.
    View in: PubMed
    Score: 0.009
  136. Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ, et al. The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library. Hum Mol Genet. 1993 Mar; 2(3):305-9.
    View in: PubMed
    Score: 0.009
  137. Scott HS, Nelson PV, MacDonald ME, Gusella JF, Hopwood JJ, Morris CP. An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics. 1992 Dec; 14(4):1118-20.
    View in: PubMed
    Score: 0.009
  138. Altherr MR, Plummer S, Bates G, MacDonald M, Taylor S, Lehrach H, Frischauf AM, Gusella JF, Boehnke M, Wasmuth JJ. Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. Genomics. 1992 Aug; 13(4):1040-6.
    View in: PubMed
    Score: 0.009
  139. Koizumi T, MacDonald M, Búcan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH. Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. Mamm Genome. 1992; 3(1):23-7.
    View in: PubMed
    Score: 0.008
  140. Baxendale S, Bates GP, MacDonald ME, Gusella JF, Lehrach H. The direct screening of cosmid libraries with YAC clones. Nucleic Acids Res. 1991 Dec 11; 19(23):6651.
    View in: PubMed
    Score: 0.008
  141. Lazarou LP, Snell RG, MacDonald ME, Gusella JF, Wasmuth JJ, Shaw DJ. MboI RFLP at the D4S43 (C4H) locus. Nucleic Acids Res. 1991 Oct 11; 19(19):5445.
    View in: PubMed
    Score: 0.008
  142. Bates GP, MacDonald ME, Baxendale S, Youngman S, Lin C, Whaley WL, Wasmuth JJ, Gusella JF, Lehrach H. Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet. 1991 Jul; 49(1):7-16.
    View in: PubMed
    Score: 0.008
  143. Youngman S, Shaw DJ, Gusella JF, MacDonald M, Stanbridge EJ, Wasmuth J, Harper PS. A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. Nucleic Acids Res. 1988 Feb 25; 16(4):1648.
    View in: PubMed
    Score: 0.007
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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.