Marcy E. MacDonald, Ph.D. - Publications

Neurology Harvard Medical School, Boston, MA, United States 
Huntington's disease, NCL

164 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2015 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, ... ... MacDonald ME, et al. Sequence-Level Analysis of the Major European Huntington Disease Haplotype. American Journal of Human Genetics. 97: 435-44. PMID 26320893 DOI: 10.1016/j.ajhg.2015.07.017  1
2015 Carroll JB, Deik A, Fossale E, Weston RM, Guide JR, Arjomand J, Kwak S, Clish CB, MacDonald ME. HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation. Plos One. 10: e0134465. PMID 26295712 DOI: 10.1371/journal.pone.0134465  1
2015 Ramos EM, Kovalenko M, Guide JR, St Claire J, Gillis T, Mysore JS, Sequeiros J, Wheeler VC, Alonso I, MacDonald ME. Chromosome substitution strain assessment of a Huntington's disease modifier locus. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 26: 119-30. PMID 25645993 DOI: 10.1007/s00335-014-9552-9  1
2015 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, et al. Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Human Molecular Genetics. 24: 2442-57. PMID 25574027 DOI: 10.1093/hmg/ddv006  1
2015 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. Human Molecular Genetics. 24: 330-45. PMID 25168387 DOI: 10.1093/hmg/ddu446  1
2015 Lee JM, Wheeler VC, Chao MJ, Vonsattel JPG, Pinto RM, Lucente D, Abu-Elneel K, Ramos EM, Mysore JS, Gillis T, MacDonald ME, Gusella JF, Harold D, Stone TC, Escott-Price V, et al. Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease Cell. 162: 516-526. DOI: 10.1016/j.cell.2015.07.003  1
2014 Pryor WM, Biagioli M, Shahani N, Swarnkar S, Huang WC, Page DT, MacDonald ME, Subramaniam S. Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington's disease. Science Signaling. 7: ra103. PMID 25351248 DOI: 10.1126/scisignal.2005633  1
2014 Thompson MN, MacDonald ME, Gusella JF, Myre MA. Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. Journal of Huntington's Disease. 3: 261-71. PMID 25300330 DOI: 10.3233/JHD-140112  1
2014 Gusella JF, MacDonald ME, Lee JM. Genetic modifiers of Huntington's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 1359-65. PMID 25154728 DOI: 10.1002/mds.26001  1
2014 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. 9: e95556. PMID 24751919 DOI: 10.1371/journal.pone.0095556  1
2014 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 Genetics. 10: e1004188. PMID 24586208 DOI: 10.1371/journal.pgen.1004188  1
2013 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, et al. Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. Journal of Huntington's Disease. 2: 279-95. PMID 25062676 DOI: 10.3233/JHD-130067  1
2013 Hölter SM, Stromberg M, Kovalenko M, Garrett L, Glasl L, Lopez E, Guide J, Götz A, Hans W, Becker L, Rathkolb B, Rozman J, Schrewed A, Klingenspor M, Klopstock T, ... ... MacDonald ME, et al. A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice. Plos One. 8: e80923. PMID 24278347 DOI: 10.1371/journal.pone.0080923  1
2013 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, ... ... Macdonald ME, et al. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 14: 173-9. PMID 23644918 DOI: 10.1007/s10048-013-0364-y  1
2013 Zhang B, Gaiteri C, Bodea LG, Wang Z, McElwee J, Podtelezhnikov AA, Zhang C, Xie T, Tran L, Dobrin R, Fluder E, Clurman B, Melquist S, Narayanan M, Suver C, ... ... MacDonald ME, et al. Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell. 153: 707-20. PMID 23622250 DOI: 10.1016/j.cell.2013.03.030  1
2013 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, ... ... MacDonald ME, et al. 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. Human Molecular Genetics. 22: 3227-38. PMID 23595883 DOI: 10.1093/hmg/ddt176  1
2013 Conforti P, Camnasio S, Mutti C, Valenza M, Thompson M, Fossale E, Zeitlin S, MacDonald ME, Zuccato C, Cattaneo E. Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death. Neurobiology of Disease. 50: 160-70. PMID 23089356 DOI: 10.1016/j.nbd.2012.10.015  1
2012 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, ... ... Macdonald ME, et al. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. American Journal of Human Genetics. 91: 1128-34. PMID 23217328 DOI: 10.1016/j.ajhg.2012.10.016  1
2012 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. 79: 1708-15. PMID 23035064 DOI: 10.1212/WNL.0b013e31826e9a5d  1
2012 Wray S, Self M, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, et al. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. Plos One. 7: e43099. PMID 22952635 DOI: 10.1371/journal.pone.0043099  1
2012 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. 79: 952; author reply 95. PMID 22927682 DOI: 10.1212/WNL.0b013e3182697986  1
2012 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, ... ... Macdonald ME, et al. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset. Human Genetics. 131: 1833-40. PMID 22825315 DOI: 10.1007/s00439-012-1205-z  1
2012 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, ... ... MacDonald ME, et al. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications. 424: 404-8. PMID 22771793 DOI: 10.1016/j.bbrc.2012.06.120  1
2012 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, ... ... MacDonald ME, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American Journal of Human Genetics. 91: 56-72. PMID 22770980 DOI: 10.1016/j.ajhg.2012.05.005  1
2012 Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. American Journal of Human Genetics. 91: 202-8. PMID 22748208 DOI: 10.1016/j.ajhg.2012.05.023  1
2012 Harrington DL, Smith MM, Zhang Y, Carlozzi NE, Paulsen JS. Cognitive domains that predict time to diagnosis in prodromal Huntington disease. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 612-9. PMID 22451099 DOI: 10.1136/jnnp-2011-301732  1
2012 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. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 13: 265-9. PMID 22409360 DOI: 10.3109/17482968.2011.653573  1
2012 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, ... ... MacDonald ME, et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nature Genetics. 44: 390-7, S1. PMID 22388000 DOI: 10.1038/ng.2202  1
2012 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, ... ... MacDonald ME, et al. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. American Journal of Human Genetics. 90: 434-44. PMID 22387017 DOI: 10.1016/j.ajhg.2012.01.005  1
2012 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, ... ... MacDonald ME, et al. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 78: 690-5. PMID 22323755 DOI: 10.1212/WNL.0b013e318249f683  1
2012 Mattis VB, Svendsen SP, Ebert A, Svendsen CN, King AR, Casale M, Winokur ST, Batugedara G, Vawter M, Donovan PJ, Lock LF, Thompson LM, Zhu Y, Fossale E, Atwal RS, ... ... Macdonald ME, et al. Induced pluripotent stem cells from patients with huntington’s disease show CAG repeat expansion associated phenotypes Cell Stem Cell. 11: 264-278. DOI: 10.1016/j.stem.2012.04.027  1
2011 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. Human Molecular Genetics. 20: 4258-67. PMID 21840924 DOI: 10.1093/hmg/ddr355  1
2011 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 Genetics. 7: e1002052. PMID 21552328 DOI: 10.1371/journal.pgen.1002052  1
2011 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. Human Molecular Genetics. 20: 2846-60. PMID 21536587 DOI: 10.1093/hmg/ddr195  1
2011 Reis SA, Thompson MN, Lee JM, Fossale E, Kim HH, Liao JK, Moskowitz MA, Shaw SY, Dong L, Haggarty SJ, MacDonald ME, Seong IS. Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis. Human Molecular Genetics. 20: 2344-55. PMID 21447599 DOI: 10.1093/hmg/ddr127  1
2011 Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. Plos One. 6: e17118. PMID 21359198 DOI: 10.1371/journal.pone.0017118  1
2011 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. Human Molecular Genetics. 20: 294-300. PMID 20977989 DOI: 10.1093/hmg/ddq464  1
2010 Valenza M, Leoni V, Karasinska JM, Petricca L, Fan J, Carroll J, Pouladi MA, Fossale E, Nguyen HP, Riess O, MacDonald M, Wellington C, DiDonato S, Hayden M, Cattaneo E. Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 10844-50. PMID 20702713 DOI: 10.1523/JNEUROSCI.0917-10.2010  1
2010 Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, ... ... MacDonald ME, et al. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature. 466: 243-7. PMID 20555325 DOI: 10.1038/nature09115  1
2010 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, et al. Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. The American Journal of Psychiatry. 167: 574-9. PMID 20360314 DOI: 10.1176/appi.ajp.2009.09070973  1
2010 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. Human Molecular Genetics. 19: 1873-82. PMID 20154343 DOI: 10.1093/hmg/ddq063  1
2010 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. Human Molecular Genetics. 19: 573-83. PMID 19933700 DOI: 10.1093/hmg/ddp524  1
2009 Gusella JF, MacDonald ME. Huntington's disease: the case for genetic modifiers. Genome Medicine. 1: 80. PMID 19725930 DOI: 10.1186/gm80  1
2009 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). American Journal of Medical Genetics. Part A. 149: 1375-81. PMID 19507258 DOI: 10.1002/ajmg.a.32901  1
2009 Menalled L, El-Khodor BF, Patry M, Suárez-Fariñas M, Orenstein SJ, Zahasky B, Leahy C, Wheeler V, Yang XW, MacDonald M, Morton AJ, Bates G, Leeds J, Park L, Howland D, et al. Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models. Neurobiology of Disease. 35: 319-36. PMID 19464370 DOI: 10.1016/j.nbd.2009.05.007  1
2009 Carnemolla A, Fossale E, Agostoni E, Michelazzi S, Calligaris R, De Maso L, Del Sal G, MacDonald ME, Persichetti F. Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease. The Journal of Biological Chemistry. 284: 18167-73. PMID 19433866 DOI: 10.1074/jbc.M109.018325  1
2009 Dragileva E, Hendricks A, Teed A, Gillis T, Lopez ET, Friedberg EC, Kucherlapati R, Edelmann W, Lunetta KL, MacDonald ME, Wheeler VC. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiology of Disease. 33: 37-47. PMID 18930147 DOI: 10.1016/j.nbd.2008.09.014  1
2008 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, et al. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1596-601. PMID 18649400 DOI: 10.1002/mds.22186  1
2008 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, ... ... MacDonald ME, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. American Journal of Human Genetics. 82: 712-22. PMID 18319076 DOI: 10.1016/j.ajhg.2008.01.011  1
2008 Paulsen JS, Langbehn DR, Stout JC, Aylward E, Ross CA, Nance M, Guttman M, Johnson S, MacDonald M, Beglinger LJ, Duff K, Kayson E, Biglan K, Shoulson I, Oakes D, et al. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. Journal of Neurology, Neurosurgery, and Psychiatry. 79: 874-80. PMID 18096682 DOI: 10.1136/jnnp.2007.128728  1
2008 Zuccato C, Marullo M, Conforti P, MacDonald ME, Tartari M, Cattaneo E. Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease. Brain Pathology (Zurich, Switzerland). 18: 225-38. PMID 18093249 DOI: 10.1111/j.1750-3639.2007.00111.x  1
2008 Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GAP, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, ... ... MacDonald ME, et al. Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) American Journal of Human Genetics. 83: 425-427. DOI: 10.1016/j.ajhg.2008.08.011  1
2007 Gusella JF, MacDonald ME. Expanding the notion of disease in Huntington's disease. Biological Psychiatry. 62: 1340. PMID 18054536 DOI: 10.1016/j.biopsych.2007.09.009  1
2007 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 Genetics. 3: e135. PMID 17708681 DOI: 10.1371/journal.pgen.0030135  1
2007 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. Journal of Medical Genetics. 44: 695-701. PMID 17660463 DOI: 10.1136/jmg.2007.050930  1
2007 Zuccato C, Belyaev N, Conforti P, Ooi L, Tartari M, Papadimou E, MacDonald M, Fossale E, Zeitlin S, Buckley N, Cattaneo E. Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 6972-83. PMID 17596446 DOI: 10.1523/JNEUROSCI.4278-06.2007  1
2007 Gusella JF, Macdonald M. Genetic criteria for Huntington's disease pathogenesis. Brain Research Bulletin. 72: 78-82. PMID 17352930 DOI: 10.1016/j.brainresbull.2006.10.014  1
2007 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. Annals of Human Genetics. 71: 295-301. PMID 17181545 DOI: 10.1111/j.1469-1809.2006.00335.x  1
2007 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. American Journal of Medical Genetics. Part A. 143: 107-11. PMID 17163523 DOI: 10.1002/ajmg.a.31544  1
2007 Thomas NST, Wiseman K, Spurlock G, MacDonald M, Üstek D, Upadhyaya M. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere Journal of Medical Genetics. 44: 215-218. PMID 16987949 DOI: 10.1136/jmg.2006.042804  1
2006 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, ... ... MacDonald ME, et al. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 67: 2206-10. PMID 17190945 DOI: 10.1212/01.wnl.0000249149.22407.d1  1
2006 Zhang Y, Leavitt BR, van Raamsdonk JM, Dragatsis I, Goldowitz D, MacDonald ME, Hayden MR, Friedlander RM. Huntingtin inhibits caspase-3 activation. The Embo Journal. 25: 5896-906. PMID 17124493 DOI: 10.1038/sj.emboj.7601445  1
2006 Araki KY, Fujimura S, MacDonald ME, Bhide PG. Characterization of mouse striatal precursor cell lines expressing functional dopamine receptors. Developmental Neuroscience. 28: 518-27. PMID 17028429 DOI: 10.1159/000095114  1
2006 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. Neurobiology of Disease. 24: 280-5. PMID 16962786 DOI: 10.1016/j.nbd.2006.07.008  1
2006 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 Neuroscience. 7: 62. PMID 16959037 DOI: 10.1186/1471-2202-7-62  1
2006 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, ... ... MacDonald ME, et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. Bmc Medical Genetics. 7: 71. PMID 16914060 DOI: 10.1186/1471-2350-7-71  1
2006 Altmann SM, Muryshev A, Fossale E, Maxwell MM, Norflus FN, Fox J, Hersch SM, Young AB, MacDonald ME, Abagyan R, Kazantsev AG. Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells. Chemistry & Biology. 13: 765-70. PMID 16873024 DOI: 10.1016/j.chembiol.2006.05.012  1
2006 Gusella JF, MacDonald ME. Huntington's disease: seeing the pathogenic process through a genetic lens. Trends in Biochemical Sciences. 31: 533-40. PMID 16829072 DOI: 10.1016/j.tibs.2006.06.009  1
2006 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, ... ... MacDonald ME, et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Archives of Neurology. 63: 826-32. PMID 16769863 DOI: 10.1001/archneur.63.6.826  1
2006 Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, MacDonald ME, Cotman SL. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. The Journal of Biological Chemistry. 281: 20483-93. PMID 16714284 DOI: 10.1074/jbc.M602180200  1
2006 Guidetti P, Bates GP, Graham RK, Hayden MR, Leavitt BR, MacDonald ME, Slow EJ, Wheeler VC, Woodman B, Schwarcz R. Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice. Neurobiology of Disease. 23: 190-7. PMID 16697652 DOI: 10.1016/j.nbd.2006.02.011  1
2006 Lloret A, Dragileva E, Teed A, Espinola J, Fossale E, Gillis T, Lopez E, Myers RH, MacDonald ME, Wheeler VC. Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice. Human Molecular Genetics. 15: 2015-24. PMID 16687439 DOI: 10.1093/hmg/ddl125  1
2006 Shibata M, Lu T, Furuya T, Degterev A, Mizushima N, Yoshimori T, MacDonald M, Yankner B, Yuan J. Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1. The Journal of Biological Chemistry. 281: 14474-85. PMID 16522639 DOI: 10.1074/jbc.M600364200  1
2006 Hickey AJ, Chotkowski HL, Singh N, Ault JG, Korey CA, MacDonald ME, Glaser RL. Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span. Genetics. 172: 2379-90. PMID 16452138 DOI: 10.1534/genetics.105.053306  1
2006 Chen-Plotkin AS, Sadri-Vakili G, Yohrling GJ, Braveman MW, Benn CL, Glajch KE, DiRocco DP, Farrell LA, Krainc D, Gines S, MacDonald ME, Cha JH. Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease. Neurobiology of Disease. 22: 233-41. PMID 16442295 DOI: 10.1016/j.nbd.2005.11.001  1
2006 Kartsaki E, Spanaki C, Tzagournissakis M, Petsakou A, Moschonas N, MacDonald M, Plaitakis A. Late-onset and typical Huntington disease families from Crete have distinct genetic origins International Journal of Molecular Medicine. 17: 335-346.  1
2005 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. Human Molecular Genetics. 14: 2871-80. PMID 16115812 DOI: 10.1093/hmg/ddi319  1
2005 Woda JM, Calzonetti T, Hilditch-Maguire P, Duyao MP, Conlon RA, MacDonald ME. Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo. Bmc Developmental Biology. 5: 17. PMID 16109169 DOI: 10.1186/1471-213X-5-17  1
2005 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. Journal of Medical Genetics. 42: 666-72. PMID 16061567 DOI: 10.1136/jmg.2004.026989  1
2005 Pontikis CC, Cotman SL, MacDonald ME, Cooper JD. Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiology of Disease. 20: 823-36. PMID 16006136 DOI: 10.1016/j.nbd.2005.05.018  1
2005 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. American Journal of Human Genetics. 77: 16-26. PMID 15871139 DOI: 10.1086/431216  1
2005 Miller TW, Zhou C, Gines S, MacDonald ME, Mazarakis ND, Bates GP, Huston JS, Messer A. A human single-chain Fv intrabody preferentially targets amino-terminal Huntingtin's fragments in striatal models of Huntington's disease. Neurobiology of Disease. 19: 47-56. PMID 15837560 DOI: 10.1016/j.nbd.2004.11.003  1
2005 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 Neuroscience. 6: 1. PMID 15649316 DOI: 10.1186/1471-2202-6-1  1
2004 Fossale E, Wolf P, Espinola JA, Lubicz-Nawrocka T, Teed AM, Gao H, Rigamonti D, Cattaneo E, MacDonald ME, Cotman SL. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. Bmc Neuroscience. 5: 57. PMID 15588329 DOI: 10.1186/1471-2202-5-57  1
2004 Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, et al. Huntington's Disease-like 2 (HDL2) in North America and Japan. Annals of Neurology. 56: 670-4. PMID 15468075 DOI: 10.1002/ana.20248  1
2004 Gauthier LR, Charrin BC, Borrell-Pagès M, Dompierre JP, Rangone H, Cordelières FP, De Mey J, MacDonald ME, Lessmann V, Humbert S, Saudou F. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell. 118: 127-38. PMID 15242649 DOI: 10.1016/j.cell.2004.06.018  1
2004 Choo YS, Johnson GV, MacDonald M, Detloff PJ, Lesort M. Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release. Human Molecular Genetics. 13: 1407-20. PMID 15163634 DOI: 10.1093/hmg/ddh162  1
2004 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, ... ... MacDonald ME, et al. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics. 5: 109-14. PMID 15029481 DOI: 10.1007/s10048-004-0175-2  1
2004 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, ... ... MacDonald M, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proceedings of the National Academy of Sciences of the United States of America. 101: 3498-503. PMID 14993615 DOI: 10.1073/pnas.0308679101  1
2004 Ruan Q, Lesort M, MacDonald ME, Johnson GV. Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway. Human Molecular Genetics. 13: 669-81. PMID 14962977 DOI: 10.1093/hmg/ddh082  1
2004 Rangone H, Poizat G, Troncoso J, Ross CA, MacDonald ME, Saudou F, Humbert S. The serum- and glucocorticoid-induced kinase SGK inhibits mutant huntingtin-induced toxicity by phosphorylating serine 421 of huntingtin. The European Journal of Neuroscience. 19: 273-9. PMID 14725621 DOI: 10.1111/j.0953-816X.2003.03131.x  1
2003 Korey CA, MacDonald ME. An over-expression system for characterizing Ppt1 function in Drosophila. Bmc Neuroscience. 4: 30. PMID 14629778 DOI: 10.1186/1471-2202-4-30  1
2003 MacDonald ME, Gines S, Gusella JF, Wheeler VC. Huntington's disease. Neuromolecular Medicine. 4: 7-20. PMID 14528049 DOI: 10.1385/NMM:4:1-2:7  1
2003 Szebenyi G, Morfini GA, Babcock A, Gould M, Selkoe K, Stenoien DL, Young M, Faber PW, MacDonald ME, McPhaul MJ, Brady ST. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron. 40: 41-52. PMID 14527432 DOI: 10.1016/S0896-6273(03)00569-5  1
2003 Gines S, Ivanova E, Seong IS, Saura CA, MacDonald ME. Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-D-aspartate receptor activation in Huntington's disease knock-in striatal cells. The Journal of Biological Chemistry. 278: 50514-22. PMID 14522959 DOI: 10.1074/jbc.M309348200  1
2003 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, ... ... MacDonald ME, et al. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. American Journal of Human Genetics. 73: 682-7. PMID 12900792 DOI: 10.1086/378133  1
2003 Snider BJ, Moss JL, Revilla FJ, Lee CS, Wheeler VC, Macdonald ME, Choi DW. Neocortical neurons cultured from mice with expanded CAG repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults. Neuroscience. 120: 617-25. PMID 12895502 DOI: 10.1016/S0306-4522(03)00382-8  1
2003 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, ... ... MacDonald ME, et al. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. American Journal of Medical Genetics. Part A. 119: 279-82. PMID 12784292 DOI: 10.1002/ajmg.a.20190  1
2003 Reid SJ, Rees MI, van Roon-Mom WM, Jones AL, MacDonald ME, Sutherland G, During MJ, Faull RL, Owen MJ, Dragunow M, Snell RG. Molecular investigation of TBP allele length: a SCA17 cellular model and population study. Neurobiology of Disease. 13: 37-45. PMID 12758065 DOI: 10.1016/S0969-9961(03)00014-7  1
2003 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. Human Molecular Genetics. 12: 497-508. PMID 12588797 DOI: 10.1093/hmg/ddg046  1
2002 van Roon-Mom WM, Reid SJ, Jones AL, MacDonald ME, Faull RL, Snell RG. Insoluble TATA-binding protein accumulation in Huntington's disease cortex. Brain Research. Molecular Brain Research. 109: 1-10. PMID 12531510 DOI: 10.1016/S0169-328X(02)00450-3  1
2002 Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Human Molecular Genetics. 11: 2709-21. PMID 12374761  1
2002 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. Human Molecular Genetics. 11: 2233-41. PMID 12217951  1
2002 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, ... ... MacDonald ME, et al. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. American Journal of Human Genetics. 70: 1089-95. PMID 11920285 DOI: 10.1086/339814  1
2002 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. Human Molecular Genetics. 11: 633-40. PMID 11912178 DOI: 10.1093/HMG/11.6.633  1
2001 Hsiao LL, Dangond F, Yoshida T, Hong R, Jensen RV, Misra J, Dillon W, Lee KF, Clark KE, Haverty P, Weng Z, Mutter GL, Frosch MP, MacDonald ME, Milford EL, et al. A compendium of gene expression in normal human tissues. Physiological Genomics. 7: 97-104. PMID 11773596 DOI: 10.1152/physiolgenomics.00040.2001  1
2001 Auerbach W, Hurlbert MS, Hilditch-Maguire P, Wadghiri YZ, Wheeler VC, Cohen SI, Joyner AL, MacDonald ME, Turnbull DH. The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Human Molecular Genetics. 10: 2515-23. PMID 11709539  1
2001 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, ... ... MacDonald ME, et al. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 57: 1124-6. PMID 11571351 DOI: 10.1212/WNL.57.6.1124  1
2001 Chun W, Lesort M, Tucholski J, Faber PW, MacDonald ME, Ross CA, Johnson GV. Tissue transglutaminase selectively modifies proteins associated with truncated mutant huntingtin in intact cells. Neurobiology of Disease. 8: 391-404. PMID 11442349 DOI: 10.1006/nbdi.2001.0390  1
2001 Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, Timmusk T, Sipione S, Cattaneo E. Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science (New York, N.Y.). 293: 493-8. PMID 11408619 DOI: 10.1126/science.1059581  1
2001 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. Annals of Neurology. 49: 29-34. PMID 11198293 DOI: 10.1002/1531-8249(200101)49:1<29::AID-ANA7>3.0.CO;2-B  1
2000 Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nature Reviews. Neuroscience. 1: 109-15. PMID 11252773 DOI: 10.1038/nrd1077  1
2000 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. Human Molecular Genetics. 9: 2175-82. PMID 10958656 DOI: 10.1093/HMG/9.14.2175  1
2000 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. Human Molecular Genetics. 9: 503-13. PMID 10699173  1
1999 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. Neurobiology of Disease. 6: 364-75. PMID 10527804 DOI: 10.1006/nbdi.1999.0260  1
1999 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. 53: 1330-2. PMID 10522893 DOI: 10.1212/WNL.53.6.1330  1
1999 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. Human Molecular Genetics. 8: 173-83. PMID 9931325 DOI: 10.1093/hmg/8.2.173  1
1999 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. Human Molecular Genetics. 8: 115-22. PMID 9887339 DOI: 10.1093/hmg/8.1.115  1
1999 Faber PW, Alter JR, MacDonald ME, Hart AC. Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron. Proceedings of the National Academy of Sciences of the United States of America. 96: 179-84. PMID 9874792 DOI: 10.1073/pnas.96.1.179  1
1998 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. Somatic Cell and Molecular Genetics. 24: 217-33. PMID 10410676 DOI: 10.1023/B:SCAM.0000007124.19463.e5  1
1998 Jackson GR, Salecker I, Dong X, Yao X, Arnheim N, Faber PW, MacDonald ME, Zipursky SL. Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron. 21: 633-42. PMID 9768849 DOI: 10.1016/S0896-6273(00)80573-5  1
1998 Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME. Huntingtin interacts with a family of WW domain proteins. Human Molecular Genetics. 7: 1463-74. PMID 9700202 DOI: 10.1093/hmg/7.9.1463  1
1997 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. Somatic Cell and Molecular Genetics. 23: 413-27. PMID 9661704  1
1997 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. Nature Genetics. 17: 404-10. PMID 9398841 DOI: 10.1038/ng1297-404  1
1997 Priller J, Scherzer CR, Faber PW, MacDonald ME, Young AB. Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Annals of Neurology. 42: 265-9. PMID 9266741 DOI: 10.1002/ana.410420222  1
1997 Tamminga CA, Schwarcz R, MacDonald ME. Images in neuroscience. Clinical genetics, I. Huntington's disease: from disease to gene. The American Journal of Psychiatry. 154: 725. PMID 9167497  1
1997 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. Human Molecular Genetics. 6: 775-9. PMID 9158152 DOI: 10.1093/hmg/6.5.775  1
1997 Penney JB, Vonsattel JP, MacDonald ME, Gusella JF, Myers RH. CAG repeat number governs the development rate of pathology in Huntington's disease. Annals of Neurology. 41: 689-92. PMID 9153534 DOI: 10.1002/ana.410410521  1
1997 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. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 3052-63. PMID 9096140  1
1996 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 Harbor Symposia On Quantitative Biology. 61: 627-38. PMID 9246489  1
1996 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. Neurobiology of Disease. 3: 183-90. PMID 8980018 DOI: 10.1006/nbdi.1996.0018  1
1996 Rubio A, Steinberg K, Figlewicz DA, MacDonald ME, Greenamyre T, Hamill R, Shoulson I, Powers JM. Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation. Acta Neuropathologica. 92: 421-7. PMID 8891076 DOI: 10.1007/s004010050539  1
1994 Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somatic Cell and Molecular Genetics. 20: 27-38. PMID 8197474 DOI: 10.1007/BF02257483  1
1994 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. Human Molecular Genetics. 3: 73-8. PMID 8162055  1
1994 Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Squitieri F, Campanella G, Bozza A, MacDonald ME. Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. Human Molecular Genetics. 3: 1129-32. PMID 7981682 DOI: 10.1093/hmg/3.7.1129  1
1994 Hubert R, Macdonald M, Gusella J, Arnheim N. High resolution localization of recombination hot spots using sperm typing Nature Genetics. 7: 420-424. PMID 7920662 DOI: 10.1038/ng0794-420  1
1993 Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ. The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library. Human Molecular Genetics. 2: 305-9. PMID 8499921  1
1993 MacDonald ME, Ambrose CM, Duyao MP, Myers RH, Lin C, Srinidhi L, Barnes G, Taylor SA, James M, Groot N, MacFarlane H, Jenkins B, Anderson MA, Wexler NS, Gusella JF, et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell. 72: 971-983. PMID 8458085 DOI: 10.1016/0092-8674(93)90585-E  1
1993 Baxendale S, MacDonald ME, Mott R, Francis F, Lin C, Kirby SF, James M, Zehetner G, Hummerich H, Valdes J. A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene. Nature Genetics. 4: 181-6. PMID 8348156 DOI: 10.1038/ng0693-181  1
1993 Myers RH, MacDonald ME, Koroshetz WJ, Duyao MP, Ambrose CM, Taylor SA, Barnes G, Srinidhi J, Lin CS, Whaley WL. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nature Genetics. 5: 168-73. PMID 8252042 DOI: 10.1038/ng1093-168  1
1993 MacDonald ME, Barnes G, Srinidhi J, Duyao MP, Ambrose CM, Myers RH, Gray J, Conneally PM, Young A, Penney J. Gametic but not somatic instability of CAG repeat length in Huntington's disease. Journal of Medical Genetics. 30: 982-6. PMID 8133508  1
1993 Myers RH, MacDonald ME, Gusella JF. Discrepancy resolved. Nature Genetics. 5: 215. PMID 8110292 DOI: 10.1038/ng1193-215b  1
1993 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. Somatic Cell and Molecular Genetics. 19: 95-101. PMID 8096345 DOI: 10.1007/BF01233958  1
1992 Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF. The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. Genomics. 14: 350-6. PMID 1427851 DOI: 10.1016/S0888-7543(05)80225-3  1
1992 Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF. A recombination event that redefines the Huntington disease region. American Journal of Human Genetics. 51: 357-62. PMID 1386495  1
1992 Bates GP, Valdes J, Hummerich H, Baxendale S, Le Paslier DL, Monaco AP, Tagle D, MacDonald ME, Altherr M, Ross M. Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nature Genetics. 1: 180-7. PMID 1303232 DOI: 10.1038/ng0692-180  1
1991 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. Somatic Cell and Molecular Genetics. 17: 421-5. PMID 1832239 DOI: 10.1007/BF01233067  1
1991 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. American Journal of Human Genetics. 49: 7-16. PMID 1829581  1
1991 Baxendale S, Bates GP, MacDonald ME, Gusella JF, Lehrach H. The direct screening of cosmid libraries with YAC clones. Nucleic Acids Research. 19: 6651. PMID 1754409 DOI: 10.1093/nar/19.23.6651  1
1991 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. Somatic Cell and Molecular Genetics. 17: 481-8. PMID 1684879 DOI: 10.1007/BF01233172  1
1991 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. American Journal of Human Genetics. 49: 723-34. PMID 1680285  1
1991 Allitto BA, MacDonald ME, Bucan M, Richards J, Romano D, Whaley WL, Falcone B, Ianazzi J, Wexler NS, Wasmuth JJ. Increased recombination adjacent to the Huntington disease-linked D4S10 marker. Genomics. 9: 104-12. PMID 1672283 DOI: 10.1016/0888-7543(91)90226-5  1
1990 Bates GP, MacDonald ME, Baxendale S, Sedlacek Z, Youngman S, Romano D, Whaley WL, Allitto BA, Poustka A, Gusella JF. A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. American Journal of Human Genetics. 46: 762-75. PMID 2138410  1
1989 MacDonald ME, Haines JL, Zimmer M, Cheng SV, Youngman S, Whaley WL, Wexler N, Bucan M, Allitto BA, Smith B. Recombination events suggest potential sites for the Huntington's disease gene. Neuron. 3: 183-90. PMID 2576211 DOI: 10.1016/0896-6273(89)90031-7  1
1989 MacDonald ME, Cheng SV, Zimmer M, Haines JL, Poustka A, Allitto B, Smith B, Whaley WL, Romano DM, Jagadeesh J. Clustering of multiallele DNA markers near the Huntington's disease gene. The Journal of Clinical Investigation. 84: 1013-6. PMID 2569477 DOI: 10.1172/JCI114222  1
1989 Cheng SV, Martin GR, Nadeau JH, Haines JL, Bucan M, Kozak CA, MacDonald ME, Lockyer JL, Ledley FD, Woo SL. Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene. Genomics. 4: 419-26. PMID 2523855 DOI: 10.1016/0888-7543(89)90349-2  1
1988 Whaley WL, Michiels F, MacDonald ME, Romano D, Zimmer M, Smith B, Leavitt J, Bucan M, Haines JL, Gilliam TC. Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Research. 16: 11769-80. PMID 2905444 DOI: 10.1093/nar/16.24.11769  1
1988 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 Research. 16: 1648. PMID 2894638 DOI: 10.1093/nar/16.4.1648  1
1987 Gilliam TC, Bucan M, MacDonald ME, Zimmer M, Haines JL, Cheng SV, Pohl TM, Meyers RH, Whaley WL, Allitto BA. A DNA segment encoding two genes very tightly linked to Huntington's disease. Science (New York, N.Y.). 238: 950-2. PMID 2890209  1
1987 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. 1: 29-34. PMID 2889660 DOI: 10.1016/0888-7543(87)90101-7  1
1987 Gilliam TC, Tanzi RE, Haines JL, Bonner TI, Faryniarz AG, Hobbs WJ, MacDonald ME, Cheng SV, Folstein SE, Conneally PM. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell. 50: 565-71. PMID 2886227 DOI: 10.1016/0092-8674(87)90029-8  1
1987 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 Research. 15: 1445-58. PMID 2881276 DOI: 10.1093/nar/15.4.1445  1
1986 Gusella JA, Gilliam TC, MacDonald ME, Cheng SV, Tanzi RE. Molecular genetics of human chromosome 4. Journal of Medical Genetics. 23: 193-9. PMID 2941587  1
1986 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 Harbor Symposia On Quantitative Biology. 51: 359-64. PMID 2884064  1
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