Marcy E. MacDonald, Ph.D. - Publications

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

236 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
2022 McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, ... ... MacDonald ME, et al. Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature Neuroscience. PMID 35379994 DOI: 10.1038/s41593-022-01033-5  0.322
2022 Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, ... ... MacDonald ME, et al. Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. American Journal of Human Genetics. PMID 35325614 DOI: 10.1016/j.ajhg.2022.03.004  0.301
2021 Hong EP, Chao MJ, Massey T, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, et al. Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease. Journal of Huntington's Disease. PMID 34180418 DOI: 10.3233/JHD-210485  0.339
2021 Hong EP, MacDonald ME, Wheeler VC, Jones L, Holmans P, Orth M, Monckton DG, Long JD, Kwak S, Gusella JF, Lee JM. Huntington's Disease Pathogenesis: Two Sequential Components. Journal of Huntington's Disease. 10: 35-51. PMID 33579862 DOI: 10.3233/JHD-200427  0.341
2020 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, et al. Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out. Human Molecular Genetics. PMID 32876667 DOI: 10.1093/Hmg/Ddaa196  0.445
2020 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, et al. Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. American Journal of Human Genetics. PMID 32589923 DOI: 10.1016/J.Ajhg.2020.05.012  0.417
2019 Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, ... ... MacDonald ME, et al. Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease. Biological Psychiatry. PMID 32087949 DOI: 10.1016/J.Biopsych.2019.12.010  0.344
2019 Lee J, Correia K, Loupe J, Kim K, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, ... ... MacDonald ME, et al. CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset Cell. 178. PMID 31398342 DOI: 10.1016/J.Cell.2019.06.036  0.43
2019 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. Journal of Human Genetics. PMID 31296921 DOI: 10.1038/S10038-019-0639-8  0.346
2019 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 Genetics. 15: e1007765. PMID 30897080 DOI: 10.1371/Journal.Pgen.1007765  0.418
2019 Kedaigle AJ, Fraenkel E, Atwal RS, Wu M, Gusella JF, MacDonald ME, Kaye JA, Finkbeiner S, Mattis VB, Tom CM, Svendsen C, King AR, Chen Y, Stocksdale JT, Lim RG, et al. Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites. Human Molecular Genetics. PMID 30768179 DOI: 10.1093/Hmg/Ddy430  0.364
2018 Long JD, Lee JM, Aylward EH, Gillis T, Mysore JS, Abu Elneel K, Chao MJ, Paulsen JS, MacDonald ME, Gusella JF. Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. American Journal of Human Genetics. PMID 30122542 DOI: 10.1016/J.Ajhg.2018.07.017  0.429
2018 Shin B, Jung R, Oh H, Owens GE, Lee H, Kwak S, Lee R, Cotman SL, Lee JM, MacDonald ME, Song JJ, Vijayvargia R, Seong IS. Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity. Molecular Therapy. Nucleic Acids. 11: 416-428. PMID 29858077 DOI: 10.1016/J.Omtn.2018.03.008  0.338
2018 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, et al. Population-specific genetic modification of Huntington's disease in Venezuela. Plos Genetics. 14: e1007274. PMID 29750799 DOI: 10.1371/Journal.Pgen.1007274  0.409
2018 Ament SA, Pearl JR, Cantle JP, Bragg RM, Skene PJ, Coffey SR, Bergey DE, Wheeler VC, MacDonald ME, Baliga NS, Rosinski J, Hood LE, Carroll JB, Price ND. Transcriptional regulatory networks underlying gene expression changes in Huntington's disease. Molecular Systems Biology. 14: e7435. PMID 29581148 DOI: 10.15252/Msb.20167435  0.368
2018 Kovalenko M, Milnerwood A, Giordano J, St Claire J, Guide JR, Stromberg M, Gillis T, Sapp E, DiFiglia M, MacDonald ME, Carroll JB, Lee JM, Tappan S, Raymond L, Wheeler VC. HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction. Journal of Huntington's Disease. 7: 17-33. PMID 29480209 DOI: 10.3233/Jhd-170282  0.389
2017 Handley RR, Reid SJ, Brauning R, Maclean P, Mears ER, Fourie I, Patassini S, Cooper GJS, Rudiger SR, McLaughlan CJ, Verma PJ, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, et al. Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases. Proceedings of the National Academy of Sciences of the United States of America. PMID 29229845 DOI: 10.1073/Pnas.1711243115  0.432
2017 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. Human Molecular Genetics. 26: 3859-3867. PMID 28934397 DOI: 10.1093/Hmg/Ddx286  0.468
2017 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. European Journal of Human Genetics : Ejhg. PMID 28832564 DOI: 10.1038/Ejhg.2017.125  0.474
2017 Ament SA, Pearl JR, Grindeland A, St Claire J, Earls JC, Kovalenko M, Gillis T, Mysore J, Gusella JF, Lee JM, Kwak S, Howland D, Lee MY, Baxter D, Scherler K, ... ... MacDonald ME, et al. High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds. Human Molecular Genetics. PMID 28334820 DOI: 10.1093/Hmg/Ddx006  0.459
2017 Bragg RM, Coffey SR, Weston RM, Ament SA, Cantle JP, Minnig S, Funk CC, Shuttleworth DD, Woods EL, Sullivan BR, Jones L, Glickenhaus A, Anderson JS, Anderson MD, Dunnett SB, ... ... MacDonald ME, et al. Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt(Q111/+) model of Huntington's disease. Scientific Reports. 7: 41570. PMID 28176805 DOI: 10.1038/Srep41570  0.399
2017 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. Human Molecular Genetics. PMID 28165127 DOI: 10.1093/Hmg/Ddx033  0.41
2017 Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME. Potential molecular consequences of transgene integration: The R6/2 mouse example. Scientific Reports. 7: 41120. PMID 28120936 DOI: 10.1038/Srep41120  0.349
2017 Cheng C, Fass DM, Folz-Donahue K, MacDonald ME, Haggarty SJ. Highly Expandable Human iPS Cell-Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High-Throughput Screening. Current Protocols in Human Genetics. 92: 21.8.1-21.8.21. PMID 28075486 DOI: 10.1002/Cphg.33  0.321
2016 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. Human Molecular Genetics. 25: 4566-4576. PMID 28172889 DOI: 10.1093/Hmg/Ddw286  0.414
2016 Braisch U, Martinez-Horta S, MacDonald M, Orth M. Important but not Enough - Information about HD Related Topics and Peer and Professional Support for Young Adults from HD Families. Journal of Huntington's Disease. 5: 379-387. PMID 27983563 DOI: 10.3233/Jhd-160218  0.315
2016 Alexandrov V, Brunner D, Menalled LB, Kudwa A, Watson-Johnson J, Mazzella M, Russell I, Ruiz MC, Torello J, Sabath E, Sanchez A, Gomez M, Filipov I, Cox K, Kwan M, ... ... MacDonald ME, et al. Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice. Nature Biotechnology. PMID 27376585 DOI: 10.1038/Nbt.3587  0.388
2016 Handley RR, Reid SJ, Patassini S, Rudiger SR, Obolonkin V, McLaughlan CJ, Jacobsen JC, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, Faull RL, Snell RG. Metabolic disruption identified in the Huntington's disease transgenic sheep model. Scientific Reports. 6: 20681. PMID 26864449 DOI: 10.1038/Srep20681  0.358
2016 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. American Journal of Human Genetics. 98: 287-298. PMID 26849111 DOI: 10.1016/J.Ajhg.2015.12.018  0.407
2015 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. 10: e0143563. PMID 26636579 DOI: 10.1371/Journal.Pone.0143563  0.396
2015 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. Journal of Huntington's Disease. 4: 279-84. PMID 26444025 DOI: 10.3233/Jhd-150169  0.405
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  0.411
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  0.308
2015 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 Disorders. 17: 403-8. PMID 25726852 DOI: 10.1111/Bdi.12289  0.351
2015 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. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 135-43. PMID 25656686 DOI: 10.1002/Ajmg.B.32289  0.436
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  0.401
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  0.388
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  0.383
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  0.444
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  0.41
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  0.339
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  0.419
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  0.398
2014 Weston R, Rodier J, Coffey S, Glickenhaus A, Boros L, MacDonald M, Carroll J. B30 Investigating Hepatic Dysfunction In The Httq111/+ Mouse With A Perturbagen-based Primary Hepatocyte System Journal of Neurology, Neurosurgery & Psychiatry. 85: A19-A20. DOI: 10.1136/Jnnp-2014-309032.58  0.313
2014 Jones L, Gusella J, MacDonald M, Wheeler V, Lee J, Myers R, Latourelle J, Harold D, Holmans P, Orth M, Kwak S. A03 Genetic Modifiers Affecting The Age At Motor Onset In Huntington’s Disease Journal of Neurology, Neurosurgery, and Psychiatry. 85. DOI: 10.1136/Jnnp-2014-309032.3  0.404
2014 Aylward E, Long J, MacDonald M, Lee J, Paulsen J, Gusella J. E01 CAG Repeat Length Predicts Rate of Striatal Atrophy, but Relationship is Nonlinear Journal of Neurology, Neurosurgery, and Psychiatry. 85. DOI: 10.1136/Jnnp-2014-309032.104  0.316
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  0.388
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  0.432
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  0.368
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  0.323
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  0.427
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  0.367
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  0.343
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  0.319
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  0.356
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  0.412
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  0.396
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  0.404
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  0.384
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  0.335
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  0.412
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  0.361
2012 Mattis V, Svendsen S, Ebert A, Svendsen C, King A, Casale M, Winokur S, Batugedara G, Vawter M, Donovan P, Lock L, Thompson L, Zhu Y, Fossale E, Atwal R, ... ... MacDonald ME, et al. A11 Induced pluripotent stem cells for basic and translational research on HD Journal of Neurology, Neurosurgery & Psychiatry. 83: A3.2-A4. DOI: 10.1136/Jnnp-2012-303524.11  0.421
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  0.402
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  0.405
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  0.394
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  0.389
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  0.337
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  0.371
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  0.36
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  0.323
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  0.321
2010 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 Systems Biology. 4: 29. PMID 20302627 DOI: 10.1186/1752-0509-4-29  0.353
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  0.463
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  0.363
2010 Ramos EM, Gillis T, Mysore J, Abuelneel K, Gusella J, MacDonald M, Lee J, Alonso I, Sequeiros J. C03 Modifiers of instability and age at onset in HD: haplotype study in the Portuguese population Journal of Neurology, Neurosurgery & Psychiatry. 81: A16.3-A17. DOI: 10.1136/Jnnp.2010.222588.3  0.43
2010 Cotman S, Cao Y, Biswas S, Wolf P, Massey A, Cuervo AM, MacDonald M, Lee J. 32. Distinct features of disease phenotypes in two genetic models of NCL Molecular Genetics and Metabolism. 99: S14-S15. DOI: 10.1016/J.Ymgme.2009.10.049  0.338
2010 MacDonald M, Lee JM, Seong IS, Fossale E, Anderson M, Wheeler V, Gusella J. Poster 16: Genetic Approach to Huntington's Disease Therapeutics Neurotherapeutics. 7: 143-143. DOI: 10.1016/J.Nurt.2009.09.018  0.447
2009 Gusella JF, MacDonald ME. Huntington's disease: the case for genetic modifiers. Genome Medicine. 1: 80. PMID 19725930 DOI: 10.1186/Gm80  0.448
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  0.356
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  0.355
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  0.337
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  0.444
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  0.317
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  0.351
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  0.371
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  0.309
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  0.393
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  0.378
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  0.346
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  0.414
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  0.413
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  0.358
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  0.332
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  0.314
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  0.351
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  0.413
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  0.393
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  0.41
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  0.328
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  0.364
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  0.344
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  0.433
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  0.386
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  0.741
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  0.359
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. DOI: 10.3892/Ijmm.17.2.335  0.398
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  0.357
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  0.385
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  0.387
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  0.367
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  0.381
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  0.355
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  0.398
2005 Hickey AJ, Ault JG, Korey CA, MacDonald ME, Glaser RL. Drosophila melanogaster Lacking the Lysosomal Enzyme Palmitoyl-Protein Thioesterase 1 Accumulate Aberrant Ultrastructural Deposits in the Form of Laminar Cytoplasmic Bodies Microscopy and Microanalysis. 11. DOI: 10.1017/S1431927605502162  0.69
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  0.38
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  0.431
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  0.339
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  0.347
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  0.446
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  0.385
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  0.314
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  0.318
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. Erratum: Huntington's disease-like 2 (HDL2) in North America and Japan (Annals of Neurology (November 2004) 56 (670-674)) Annals of Neurology. 56. DOI: 10.1002/Ana.20349  0.339
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  0.735
2003 MacDonald ME. Huntingtin: alive and well and working in middle management. Science's Stke : Signal Transduction Knowledge Environment. 2003: pe48. PMID 14600292 DOI: 10.1126/Stke.2003.207.Pe48  0.313
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  0.431
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  0.31
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  0.353
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  0.407
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  0.353
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  0.415
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  0.341
2003 Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Human Mutation. 21: 502-8. PMID 12673792 DOI: 10.1002/Humu.10207  0.383
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  0.413
2003 Wheeler VC, Lebel LA, Vrbanac V, Teed A, te Riele H, MacDonald ME. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Human Molecular Genetics. 12: 273-81. PMID 12554681 DOI: 10.1093/Hmg/Ddg056  0.466
2003 Goodman N, McCormick K, Goldowitz D, Hockly E, Johnson C, Kristal B, MacDonald M, Truant R, van Beuzekom M. Plans for HDBase - A research community website for Huntington's disease Clinical Neuroscience Research. 3: 197-217. DOI: 10.1016/S1566-2772(03)00062-8  0.322
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  0.387
2002 Namura S, Hirt L, Wheeler VC, McGinnis KM, Hilditch-Maguire P, Moskowitz MA, MacDonald ME, Persichetti F. The HD mutation does not alter neuronal death in the striatum of Hdh(Q92) knock-in mice after mild focal ischemia. Neurobiology of Disease. 11: 147-54. PMID 12460554 DOI: 10.1006/Nbdi.2002.0532  0.397
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 DOI: 10.1093/Hmg/11.22.2709  0.407
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 DOI: 10.1093/Hmg/11.19.2233  0.418
2002 Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Human Molecular Genetics. 11: 971-9. PMID 11971878 DOI: 10.1093/Hmg/11.8.971  0.392
2002 Richfield EK, Vonsattel JP, MacDonald ME, Sun Z, Deng YP, Reiner A. Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 327-32. PMID 11921119 DOI: 10.1002/Mds.10032  0.378
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  0.327
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  0.454
2002 Gusella J, MacDonald M. No post-genetics era in human disease research. Nature Reviews. Genetics. 3: 72-9. PMID 11823793 DOI: 10.1038/Nrg706  0.345
2002 Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, ... MacDonald ME, et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. American Journal of Human Genetics. 70: 324-35. PMID 11791207 DOI: 10.1086/338190  0.461
2002 Brummelkamp TR, Kortlever RM, Lingbeek M, Trettel F, MacDonald ME, van Lohuizen M, Bernards R. TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. The Journal of Biological Chemistry. 277: 6567-72. PMID 11748239 DOI: 10.1074/Jbc.M110492200  0.376
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 DOI: 10.1093/Hmg/10.22.2515  0.415
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  0.317
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  0.397
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  0.379
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  0.405
2000 Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nature Reviews. Neuroscience. 1: 109-15. PMID 11252773 DOI: 10.1038/35039051  0.397
2000 Trettel F, Rigamonti D, Hilditch-Maguire P, Wheeler VC, Sharp AH, Persichetti F, Cattaneo E, MacDonald ME. Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells. Human Molecular Genetics. 9: 2799-809. PMID 11092756 DOI: 10.1093/Hmg/9.19.2799  0.414
2000 Hilditch-Maguire P, Trettel F, Passani LA, Auerbach A, Persichetti F, MacDonald ME. Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Human Molecular Genetics. 9: 2789-97. PMID 11092755 DOI: 10.1093/Hmg/9.19.2789  0.33
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  0.413
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 DOI: 10.1093/Hmg/9.4.503  0.402
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  0.339
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  0.415
1999 Mariani R, Wong S, Mulder LC, Wilkinson DA, Reinhart AL, LaRosa G, Nibbs R, O'Brien TR, Michael NL, Connor RI, Macdonald M, Busch M, Koup RA, Landau NR. CCR2-64I polymorphism is not associated with altered CCR5 expression or coreceptor function. Journal of Virology. 73: 2450-9. PMID 9971830 DOI: 10.1128/Jvi.73.3.2450-2459.1999  0.319
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  0.372
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  0.385
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  0.349
1999 Karluk D, Myers RH, DiFiglia M, Gusella JF, MacDonald ME, Penney JB, Young AB, Hobbs W, Lenzi S, Srinidhi S, Hedley-Whyte ET, Vonsattel J. NONAGENARIANS WITH HUNTINGTON DISEASE (HD) HAVE LOW CAG REPEATS Journal of Neuropathology and Experimental Neurology. 58: 549. DOI: 10.1097/00005072-199905000-00170  0.38
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  0.394
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  0.409
1998 Fenner MH, Parrish JE, Boyd Y, Reed V, MacDonald M, Nelson DL, Isselbacher KJ, Shioda T. MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis. Genomics. 51: 401-7. PMID 9721210 DOI: 10.1006/Geno.1998.5383  0.363
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  0.346
1998 Gusella JF, MacDonald ME. Huntingtin: a single bait hooks many species. Current Opinion in Neurobiology. 8: 425-30. PMID 9687360 DOI: 10.1016/S0959-4388(98)80071-8  0.382
1998 Jenkins BG, Rosas HD, Chen YC, Makabe T, Myers R, MacDonald M, Rosen BR, Beal MF, Koroshetz WJ. 1H NMR spectroscopy studies of Huntington's disease: correlations with CAG repeat numbers. Neurology. 50: 1357-65. PMID 9595987 DOI: 10.1212/Wnl.50.5.1357  0.391
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 DOI: 10.1007/Bf02673751  0.348
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  0.445
1997 Jones RM, MacDonald ME, Branda J, Altherr MR, Louis DN, Schmidt EV. Assignment of the human gene encoding eukaryotic initiation factor 4E (EIF4E) to the region q21-25 on chromosome 4. Somatic Cell and Molecular Genetics. 23: 221-3. PMID 9330633 DOI: 10.1007/Bf02721373  0.341
1997 Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, Altherr MR, Riess O, Sutherland G, Callen DF. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. American Journal of Medical Genetics. 71: 453-7. PMID 9286454 DOI: 10.1002/(Sici)1096-8628(19970905)71:4<453::Aid-Ajmg15>3.0.Co;2-F  0.315
1997 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. Experimental Neurology. 144: 239-47. PMID 9168825 DOI: 10.1006/Exnr.1997.6441  0.353
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  0.384
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  0.4
1997 Gusella JF, Persichetti F, MacDonald ME. The genetic defect causing Huntington's disease: repeated in other contexts? Molecular Medicine (Cambridge, Mass.). 3: 238-46. PMID 9131586 DOI: 10.1007/Bf03401677  0.376
1997 G. Vonsattel J-, Zhao Y, Lenzi S, Gómez-Isla T, Hyman BT, Myers R, DiFielia M, Gusella J, MacDonald M, Ma MJ, Hedley-Whyte ET. ALZHEIMER DISEASE DOES NOT PROTECT THE NEOSTRIATUM IN COMBINED CASES OF HUNTINGTON (HD) AND ALZHEIMER DISEASE (AD) Journal of Neuropathology and Experimental Neurology. 56: 617. DOI: 10.1097/00005072-199705000-00198  0.307
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 DOI: 10.1101/Sqb.1996.061.01.063  0.382
1996 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 Harbor Symposia On Quantitative Biology. 61: 615-26. PMID 9246488 DOI: 10.1055/S-2008-1063867  0.346
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  0.439
1996 MacDonald ME, Gusella JF. Huntington's disease: translating a CAG repeat into a pathogenic mechanism. Current Opinion in Neurobiology. 6: 638-43. PMID 8937828 DOI: 10.1016/S0959-4388(96)80097-3  0.439
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  0.405
1996 Gusella JF, MacDonald ME. Trinucleotide instability: a repeating theme in human inherited disorders. Annual Review of Medicine. 47: 201-9. PMID 8712774 DOI: 10.1146/Annurev.Med.47.1.201  0.346
1996 Premont RT, Macrae AD, Stoffel RH, Chung N, Pitcher JA, Ambrose C, Inglese J, MacDonald ME, Lefkowitz RJ. Characterization of the G protein-coupled receptor kinase GRK4. Identification of four splice variants. The Journal of Biological Chemistry. 271: 6403-10. PMID 8626439 DOI: 10.1074/Jbc.271.11.6403  0.328
1995 Gusella JF, MacDonald ME. Huntington's disease: CAG genetics expands neurobiology. Current Opinion in Neurobiology. 5: 656-62. PMID 8580718 DOI: 10.1016/0959-4388(95)80072-7  0.419
1995 Leeflang EP, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Human Molecular Genetics. 4: 1519-26. PMID 8541834 DOI: 10.1093/Hmg/4.9.1519  0.372
1995 Landwehrmeyer GB, McNeil SM, Dure IV LS, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, Bonilla E, De Young M, Avila-Gonzales AJ, Wexler NS, DiFiglia M, Gusella JF, ... MacDonald ME, et al. Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals Annals of Neurology. 37: 218-230. PMID 7847863 DOI: 10.1002/Ana.410370213  0.394
1995 Gusella JF, MacDonald ME. Huntington's disease. Seminars in Cell Biology. 6: 21-8. PMID 7620118 DOI: 10.1016/1043-4682(95)90011-X  0.441
1994 Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiology of Disease. 1: 159-66. PMID 9173995 DOI: 10.1006/Nbdi.1994.0019  0.407
1994 Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Pergola M, Del Senno L, MacDonald ME, Gusella JF. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Human Molecular Genetics. 3: 93-8. PMID 8162059 DOI: 10.1093/Hmg/3.1.93  0.405
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 DOI: 10.1093/Hmg/3.1.73  0.436
1994 Gusella JF, MacDonald ME. Huntington's disease and repeating trinucleotides. The New England Journal of Medicine. 330: 1450-1. PMID 8159202 DOI: 10.1056/Nejm199405193302011  0.429
1994 MacCollin M, Peterfreund R, MacDonald M, Fink JS, Gusella J. Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22. Genomics. 20: 332-3. PMID 8020991 DOI: 10.1006/Geno.1994.1181  0.312
1994 Barnes GT, Duyao MP, Ambrose CM, McNeil S, Persichetti F, Srinidhi J, Gusella JF, MacDonald ME. Mouse Huntington's disease gene homolog (Hdh). Somatic Cell and Molecular Genetics. 20: 87-97. PMID 8009370 DOI: 10.1007/Bf02290678  0.455
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  0.339
1994 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. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 5: 424-8. PMID 7919654 DOI: 10.1007/Bf00357002  0.396
1994 Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J. Trinucleotide repeat length and progression of illness in Huntington's disease. Journal of Medical Genetics. 31: 872-4. PMID 7853373 DOI: 10.1136/Jmg.31.11.872  0.445
1994 Dure IV LS, Bernhard Landwehrmeyer G, Golden J, McNeil SM, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, DiFiglia M, Gusella JF, MacDonald ME, Penney JB, Young AB, et al. IT15 gene expression in fetal human brain Brain Research. 659: 33-41. PMID 7820679 DOI: 10.1016/0006-8993(94)90860-5  0.319
1993 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. Human Molecular Genetics. 2: 489. PMID 8504314 DOI: 10.1093/Hmg/2.4.489  0.385
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 DOI: 10.1093/Hmg/2.3.305  0.374
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  0.455
1993 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. Nature Genetics. 4: 393-7. PMID 8401588 DOI: 10.1038/Ng0893-393  0.432
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  0.407
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  0.31
1993 Gusella JF, MacDonald ME. Hunting for Huntington's disease. Molecular Genetic Medicine. 3: 139-58. PMID 8220162 DOI: 10.1016/B978-0-12-462003-2.50009-2  0.346
1993 Gusella JF, MacDonald ME, Ambrose CM, Duyao MP. Molecular genetics of Huntington's disease. Archives of Neurology. 50: 1157-63. PMID 8215974 DOI: 10.1001/Archneur.1993.00540110037003  0.443
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 DOI: 10.1136/Jmg.30.12.982  0.372
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  0.34
1992 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. Molecular and Cellular Probes. 6: 513-20. PMID 1480191 DOI: 10.1016/0890-8508(92)90048-3  0.382
1992 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. 14: 1118-20. PMID 1478658 DOI: 10.1016/S0888-7543(05)80145-4  0.379
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  0.349
1992 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. 13: 1040-6. PMID 1387106 DOI: 10.1016/0888-7543(92)90017-M  0.326
1992 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. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 3: 151-5. PMID 1352160 DOI: 10.1007/Bf00352459  0.35
1992 Ambrose C, James M, Barnes G, Lin C, Bates G, Altherr M, Duyao M, Groot N, Church D, Wasmuth JJ, Lehrach H, Housman D, Buckler A, Gusella JF, MacDonald ME. A novel G protein-coupled receptor kinase gene cloned from 4p16.3 Human Molecular Genetics. 1: 697-703. PMID 1338872 DOI: 10.1093/Hmg/1.9.697  0.36
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  0.414
1992 MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R. The Huntington's disease candidate region exhibits many different haplotypes. Nature Genetics. 1: 99-103. PMID 1302016 DOI: 10.1038/Ng0592-99  0.446
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  0.399
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  0.383
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  0.301
1990 Bu?an M, Zimmer M, Whaley WL, Poustka A, Youngman S, Allitto BA, Ormondroyd E, Smith B, Pohl TM, MacDonald M, Bates GP, Richards J, Volinia S, Gilliam TC, Sedlacek Z, et al. Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation Genomics. 6: 1-15. PMID 2137426 DOI: 10.1016/0888-7543(90)90442-W  0.379
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  0.411
1989 Altherr MR, Smith B, MacDonald ME, Hall L, Wasmuth JJ. Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene. Genomics. 5: 581-8. PMID 2575587 DOI: 10.1016/0888-7543(89)90026-8  0.411
1989 Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf AM, Wasmuth JJ, Gusella JF, Lehrach H, Harper PS, Shaw DJ. A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene Genomics. 5: 802-809. PMID 2574148 DOI: 10.1016/0888-7543(89)90122-5  0.381
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  0.414
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  0.402
1988 Pohl TM, Zimmer M, MacDonald ME, Smith B, Bucan M, Poustka A, Volinia S, Searle S, Zehetner G, Wasmuth JJ. Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. Nucleic Acids Research. 16: 9185-98. PMID 2971929 DOI: 10.1093/Nar/16.19.9185  0.397
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  0.413
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 DOI: 10.1126/Science.2890209  0.437
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  0.354
1987 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. Somatic Cell and Molecular Genetics. 13: 569-74. PMID 2889272 DOI: 10.1007/Bf01534498  0.415
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  0.434
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 DOI: 10.1101/Sqb.1986.051.01.043  0.429
1980 MacDonald ME, Reynolds FH, Van de Ven WJ, Stephenson JR, Mak TW, Bernstein A. Anemia- and polycythemia-inducing isolates of Friend spleen focus-forming virus. Biological and molecular evidence for two distinct viral genomes. The Journal of Experimental Medicine. 151: 1477-92. PMID 6929880 DOI: 10.1084/Jem.151.6.1477  0.323
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