M. MacDonald

T. Gillis, J. Mysore, M. MacDonald, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

Samuel Frank, Karen Marder, Christopher A. Ross, 2012, Human Genetics.

Genetic modifiers of Huntington's disease

M. MacDonald, J. Gusella, Jong-Min Lee, 2014, Movement disorders : official journal of the Movement Disorder Society.

TBX-3, the Gene Mutated in Ulnar-Mammary Syndrome, Is a Negative Regulator of p19 ARF and Inhibits Senescence*

M. MacDonald, T. Brummelkamp, F. Trettel, 2002, The Journal of Biological Chemistry.

Huntington’s Disease

M. MacDonald, J. Gusella, V. Wheeler, 2007, NeuroMolecular Medicine.

A DNA segment encoding two genes very tightly linked to Huntington's disease.

J. Haines, M. Bucan, M. MacDonald, 1987, Science.

Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA

M. MacDonald, J. Gusella, I. Seong, 2019, Journal of Human Genetics.

Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease

James F. Gusella, Marcy E. MacDonald, M. MacDonald, 2000, Nature Reviews Neuroscience.

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

Michael E Talkowski, Francesco Ferrari, Peter J Park, 2015, Human molecular genetics.

M. MacDonald, I. Kohane, K. Coser, 2011, Human molecular genetics.

Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules

Fabrice P Cordelières, Volkmar Leßmann, M. MacDonald, 2004, Cell.

Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington’s disease

M. MacDonald, D. Page, N. Shahani, 2014, Science Signaling.

Deficiency of Huntingtin Has Pleiotropic Effects in the Social Amoeba Dictyostelium discoideum

M. MacDonald, J. Gusella, Michael A. Myre, 2011, PLoS genetics.

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

Jane S. Paulsen, P. Holmans, T. Gillis, 2019, Biological Psychiatry.

RESEARCH ARTICLE: Systematic Assessment of BDNF and Its Receptor Levels in Human Cortices Affected by Huntington's Disease

M. MacDonald, E. Cattaneo, C. Zuccato, 2007, Brain pathology.

Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity

M. MacDonald, Ji-Joon Song, I. Seong, 2018, Molecular therapy. Nucleic acids.

Huntingtin-Associated Proteins

M. MacDonald, P. Hilditch-Maguire, L. Passani, 2001 .

Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.

M. MacDonald, F. Persichetti, F. Trettel, 2000, Human molecular genetics.

Huntingtin interacts with a family of WW domain proteins.

M. MacDonald, J. Gusella, G. Barnes, 1998, Human molecular genetics.

Huntingtin: a single bait hooks many species

M. MacDonald, J. Gusella, 1998, Current Opinion in Neurobiology.

The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts?

M. MacDonald, J. Gusella, F. Persichetti, 1997, Molecular medicine.

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

Annette Lee, P. Gregersen, T. Gillis, 2010, Nature.

Host control of sequences specific to Friend erythroleukemia virus in normal and leukemic mice.

M. MacDonald, T. Mak, A. Bernstein, 1980, Cold Spring Harbor symposia on quantitative biology.

Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

Jane S. Paulsen, P. Holmans, M. MacDonald, 2022, npj Genomic Medicine.

Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

P. Holmans, M. MacDonald, J. Long, 2021, npj Genomic Medicine.

Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease

P. Holmans, M. MacDonald, N. Williams, 2021, Neurology.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Jane S. Paulsen, R H Myers, C A Ross, 2012, Neurology.

Huntington's disease: the case for genetic modifiers

M. MacDonald, J. Gusella, 2009, Genome Medicine.

Increased recombination adjacent to the Huntington disease-linked D4S10 marker.

M. Bucan, M. MacDonald, N. Wexler, 1991, Genomics.

Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron.

M. MacDonald, A. Hart, P W Faber, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Normal and Expanded Huntington’s Disease Gene Alleles Produce Distinguishable Proteins Due to Translation Across the CAG Repeat

M. MacDonald, J. Gusella, J. Vonsattel, 1995, Molecular medicine.

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

L. Hood, J. Roach, T. Gillis, 2015, American journal of human genetics.

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

T. Gillis, J. Mysore, M. MacDonald, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

Jane S. Paulsen, J. Mysore, M. MacDonald, 2004, Neurogenetics.

Assessment of cortical and striatal involvement in 523 Huntington disease brains

Richard H. Myers, L. Adrienne Cupples, Kathryn L. Lunetta, 2012, Neurology.

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.

M. MacDonald, J. Wasmuth, L. Hall, 1989, Genomics.

Genetic modifiers of Huntington's disease differentially influence motor and cognitive domains

Jane S. Paulsen, P. Holmans, T. Gillis, 2022, medRxiv.

Complex patterns of linkage disequilibrium in the Huntington disease region.

M. MacDonald, H. Lehrach, J. Gusella, 1991, American journal of human genetics.

Population-specific genetic modification of Huntington's disease in Venezuela

L. Hood, J. Roach, P. Holmans, 2018, PLoS genetics.

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.

M. MacDonald, A. Joyner, S. Hersch, 2000, Human molecular genetics.

Meclizine is neuroprotective in models of Huntington's disease.

V. Mootha, M. MacDonald, J. Gusella, 2011, Human molecular genetics.

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum.

M. MacDonald, V. Wheeler, Allison M Teed, 2003, Human molecular genetics.

Clustering of multiallele DNA markers near the Huntington's disease gene.

J. Haines, M. MacDonald, W. Whaley, 1989, The Journal of clinical investigation.

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

M. MacDonald, R. Snell, R. Faull, 2002, Brain research. Molecular brain research.

Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene.

M. Bucan, M. MacDonald, G. Zehetner, 1988, Nucleic acids research.

Different pseudotypesof friend spleen focus-forming virus induce polycythemia and erythropoietin-independent colony formation in serum-free medium

M. MacDonald, A. Bernstein, G. Johnson, 1981 .

Clonal analysis of the late stages of erythroleukemia induced by two distinct strains of Friend leukemia virus

M. MacDonald, T. Mak, D. Mager, 1981, Molecular and cellular biology.

Different pseudotypes of Friend spleen focus-forming virus induce polycythemia and erythropoietin-independent colony formation in serum-free medium.

M. MacDonald, A. Bernstein, G. Johnson, 1981, Virology.

Clonal analysis of early and late stages of erythroleukemia induced by molecular clones of integrated spleen focus-forming virus.

M. MacDonald, A. Joyner, D. Mager, 1981, Proceedings of the National Academy of Sciences of the United States of America.

Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene.

J. Haines, M. Bucan, J. Nadeau, 1989, Genomics.

Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway.

M. MacDonald, G. Johnson, M. Lesort, 2004, Human molecular genetics.

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.

P. Holmans, M. MacDonald, J. Gusella, 2015, Journal of Huntington's disease.

Quantitative neuropathological changes in presymptomatic Huntington's disease

R H Myers, M. MacDonald, J. Gusella, 2001, Annals of neurology.

Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease

M. MacDonald, D. Krainc, L. Farrell, 2006, Neurobiology of Disease.

Huntingtin: Alive and Well and Working in Middle Management

M. MacDonald, Marcy E MacDonald, 2003, Science's STKE.

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Jane S. Paulsen, T. Gillis, J. Mysore, 2006, BMC Medical Genetics.

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

M. Owen, M. MacDonald, R. Snell, 2003, Neurobiology of Disease.

Trinucleotide repeat length and progression of illness in Huntington's disease.

M. MacDonald, K. Kieburtz, K. Kieburtz, 1994, Journal of medical genetics.

No post-genetics era in human disease research

M. MacDonald, J. Gusella, 2002, Nature Reviews Genetics.

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

T. Gillis, M. MacDonald, J. Gusella, 2017, Human molecular genetics.

Cholesterol Defect Is Marked across Multiple Rodent Models of Huntington's Disease and Is Manifest in Astrocytes

M. MacDonald, M. Hayden, O. Riess, 2010, The Journal of Neuroscience.

Neocortical neurons cultured from mice with expanded cag repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults

M. MacDonald, D. Choi, B. Snider, 2003, Neuroscience.

Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.

M. MacDonald, D. Borchelt, S. Hersch, 2002, Human molecular genetics.

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

Jacqueline K. White, M. MacDonald, A. Joyner, 1997, Nature Genetics.

Huntingtin inhibits caspase‐3 activation

M. MacDonald, M. Hayden, B. Leavitt, 2006, The EMBO journal.

Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons

M. MacDonald, J. Penney, A. Young, 1997, Experimental Neurology.

Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals

M. MacDonald, J. Penney, A. Young, 1995, Annals of neurology.

Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.

P. Holmans, M. MacDonald, J. Long, 2021, Journal of Huntington's disease.

Tissue Transglutaminase Selectively Modifies Proteins Associated with Truncated Mutant Huntingtin in Intact Cells

M. MacDonald, C. Ross, G. Johnson, 2001, Neurobiology of Disease.

Huntington's disease: CAG genetics expands neurobiology

M. MacDonald, J. Gusella, 1995, Current Opinion in Neurobiology.

Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat

R. Durbin, D. Church, M. MacDonald, 1994, Somatic cell and molecular genetics.

Huntington's disease: translating a CAG repeat into a pathogenic mechanism

M. MacDonald, J. Gusella, James F Gusella, 1996, Current Opinion in Neurobiology.

Mouse Huntington's disease gene homolog (Hdh)

M. MacDonald, J. Gusella, C. Ambrose, 1994, Somatic cell and molecular genetics.

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)

K. Lunetta, M. MacDonald, J. Gusella, 2009, American journal of medical genetics. Part A.

Mutant Huntingtin Forms in Vivo Complexes with Distinct Context-Dependent Conformations of the Polyglutamine Segment

M. MacDonald, J. Gusella, F. Persichetti, 1999, Neurobiology of Disease.

Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins

M. MacDonald, J. Gusella, J. Vonsattel, 1998, Somatic cell and molecular genetics.

Chromosome substitution strain assessment of a Huntington’s disease modifier locus

T. Gillis, J. Mysore, M. MacDonald, 2015, Mammalian Genome.

HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation

M. MacDonald, C. Clish, S. Kwak, 2015, PloS one.

A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington’s Disease CAG Knock-In Mice

Edith T. Lopez, H. Fuchs, T. Gillis, 2013, PloS one.

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.

Edith T. Lopez, T. Gillis, M. MacDonald, 2006, Human molecular genetics.

Genetic overlap between psychiatric disorders and neuropsychiatric symptoms in HD

Jane S. Paulsen, P. Holmans, T. Gillis, 2019 .

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.

Peter Holmans, Lesley Jones, Michael Orth, 2016, American journal of human genetics.

Huntington’s Disease Pathogenesis: Two Sequential Components

P. Holmans, M. MacDonald, J. Long, 2021, Journal of Huntington's disease.

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.

M. MacDonald, J. Growdon, J. Gusella, 2002, American journal of human genetics.

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.

M. Rietschel, P. Sullivan, M. Fava, 2010, The American journal of psychiatry.

Characterization of the G Protein-coupled Receptor Kinase GRK4

M. MacDonald, R. Stoffel, R. Lefkowitz, 1996, The Journal of Biological Chemistry.

The timing and impact of psychiatric, cognitive and motor manifestations of Huntington’s disease

P. Holmans, M. MacDonald, N. Williams, 2020, bioRxiv.

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

T. Gillis, J. Mysore, M. MacDonald, 2020, Human molecular genetics.

Heterogeneous Topographic and Cellular Distribution of Huntingtin Expression in the Normal Human Neostriatum

M. MacDonald, S. Hersch, J. Gusella, 1997, The Journal of Neuroscience.

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

M. MacDonald, J. Priller, C. Scherzer, 1997, Annals of neurology.

Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington’s disease

Cory C. Funk, N. Price, M. MacDonald, 2016, Scientific Reports.

Haplotype-based stratification of Huntington's disease

P. Holmans, T. Gillis, J. Mysore, 2017, European Journal of Human Genetics.

A human single-chain Fv intrabody preferentially targets amino-terminal huntingtin fragments in striatal models of Huntington's disease

M. MacDonald, G. Bates, J. Huston, 2005, Neurobiology of Disease.

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

M. MacDonald, M. Hayden, R. Schwarcz, 2006, Neurobiology of Disease.

The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin.

M. MacDonald, A. Joyner, D. Turnbull, 2001, Human molecular genetics.

Differential Expression of Normal and Mutant Huntington's Disease Gene Alleles

James F. Gusella, Marcy E. MacDonald, M. MacDonald, 1996, Neurobiology of Disease.

Mutations causing Lopes-Maciel-Rodan Syndrome are huntingtin hypomorphs.

Ryan L. Collins, T. Gillis, J. Mysore, 2021, Human molecular genetics.

Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death

M. MacDonald, S. Zeitlin, E. Cattaneo, 2013, Neurobiology of Disease.

Late-onset and typical Huntington disease families from Crete have distinct genetic origins.

M. MacDonald, N. Moschonas, A. Plaitakis, 2006, International journal of molecular medicine.

Rrs1 Is Involved in Endoplasmic Reticulum Stress Response in Huntington Disease*

M. MacDonald, F. Persichetti, G. Del Sal, 2009, The Journal of Biological Chemistry.

Huntington's disease–like 2 (HDL2) in North America and Japan

J. Mysore, M. MacDonald, M. Hayden, 2004, Annals of neurology.

Huntington's disease.

M. MacDonald, J. Gusella, V. Wheeler, 1995, Neuromolecular medicine.

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.

M. MacDonald, I. Kohane, K. Coser, 2011, Human molecular genetics.

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.

M. MacDonald, J. Gusella, F. Persichetti, 2003, Human molecular genetics.

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.

J. Mysore, M. MacDonald, J. Gusella, 2002, Human molecular genetics.

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Jane S. Paulsen, Megan M. Romer, J. Jankovic, 2016, JAMA neurology.

HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes

M. MacDonald, I. Kohane, K. Coser, 2014, PloS one.

Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum.

M. MacDonald, J. Gusella, Michael A. Myre, 2014, Journal of Huntington's disease.

Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.

S. Haggarty, M. MacDonald, M. Moskowitz, 2011, Human molecular genetics.

Detection by PCR of a VNTR polymorphism at D4S43.

M. MacDonald, A. McClatchey, J. Gusella, 1991, Nucleic acids research.

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

T. Gillis, J. Mysore, M. MacDonald, 2012, American journal of human genetics.

Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.

M. MacDonald, J. Gusella, J. Vonsattel, 2000, Human molecular genetics.

Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

M. MacDonald, R. Snell, J. Gusella, 2017, Proceedings of the National Academy of Sciences.

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

T. Gillis, J. Mysore, M. MacDonald, 2013, neurogenetics.

Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease

M. MacDonald, E. Richfield, A. Reiner, 2002, Movement disorders : official journal of the Movement Disorder Society.

IT15 gene expression in fetal human brain

G. Bernhard Landwehrmeyer, James F. Gusella, Marcy E. MacDonald, 1994, Brain Research.

Important but not Enough - Information about HD Related Topics and Peer and Professional Support for Young Adults from HD Families.

M. MacDonald, M. Orth, S. Martínez-Horta, 2016, Journal of Huntington's disease.

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.

Bin Zhang, T. Gillis, M. MacDonald, 2013, Human molecular genetics.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

M. MacDonald, R. Roos, J. Gusella, 2012, Neurology.

Evidence for glutamate excitotoxicity that occurs before the onset of cell loss and motor symptoms in an ovine Huntington’s Disease model

M. MacDonald, J. C. Jacobsen, R. Snell, 2023, bioRxiv.

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study

T. Gillis, J. Mysore, M. MacDonald, 2008, Movement disorders : official journal of the Movement Disorder Society.

Evidence for glutamate excitotoxicity that occurs before the onset of striatal cell loss and motor symptoms in an ovine Huntington’s Disease model

M. MacDonald, J. C. Jacobsen, R. Snell, 2023, bioRxiv.

The HD Mutation Does Not Alter Neuronal Death in the Striatum of HdhQ92 Knock-in Mice after Mild Focal Ischemia

M. MacDonald, M. Moskowitz, F. Persichetti, 2002, Neurobiology of Disease.

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington’s disease

T. Gillis, M. MacDonald, J. Gusella, 2006, Neurobiology of Disease.

Huntington's disease: Nearly four decades of human molecular genetics.

M. MacDonald, J. Gusella, Jong-Min Lee, 2021, Human molecular genetics.

Identification of compounds which inhibit cytotoxicity associated with mutant Huntingtin protein expression

M. MacDonald, Noel Southall, Wei Zheng, 2011 .

Genetic analysis of the GRIK2 modifier effect in Huntington's disease

T. Gillis, M. MacDonald, J. Gusella, 2006, BMC Neuroscience.

Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells.

R. Abagyan, M. MacDonald, A. Young, 2006, Chemistry & biology.

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.

Jacqueline K. White, A Auerbach, M. MacDonald, 1999, Human molecular genetics.

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

Jane S. Paulsen, P. Holmans, T. Gillis, 2019, Cell.

Genetic criteria for Huntington's disease pathogenesis

M. MacDonald, J. Gusella, 2007, Brain Research Bulletin.

Genetic modifiers of Huntington's disease.

M. MacDonald, J. Gusella, Jong-Min Lee, 2014 .

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

D. Stephan, M. MacDonald, J. Espinola, 2003, Human mutation.

The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington’s disease

P. Holmans, M. MacDonald, N. Williams, 2020 .

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.

T. Gillis, J. Mysore, M. MacDonald, 2012, Biochemical and biophysical research communications.

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

M. MacDonald, M. Hayden, C. Ross, 2003, American journal of medical genetics. Part A.

Evidence for the GluR6 gene associated with younger onset age of Huntington’s disease

M. MacDonald, J. Gusella, L. Cupples, 1999, Neurology.

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

M. MacDonald, J. Penney, C. Ambrose, 1993, Journal of medical genetics.

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

Jane S. Paulsen, P. Holmans, T. Gillis, 2019, Cell.

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

T. Gillis, M. MacDonald, J. Gusella, 2023, bioRxiv.

Transmission of hepatitis C virus: rates, routes, and cofactors.

M. MacDonald, J. Kaldor, N. Crofts, 1996, Epidemiologic reviews.

miR-10 b-5 p expression in Huntington ' s disease brain relates to age of onset and the extent of striatal involvement

Vinay K. Kartha, M. MacDonald, J. Gusella, 2015 .

Factors associated with HD CAG repeat instability in Huntington disease

J. Mysore, M. MacDonald, J. Gusella, 2007, Journal of Medical Genetics.

Population-specific genetic modification of Huntington ' s disease in Venezuela 1 2

J. Roach, P. Holmans, M. MacDonald, 2018 .

The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

M. MacDonald, H. Lehrach, J. Gusella, 1992, Genomics.

Trinucleotide instability: a repeating theme in human inherited disorders.

M. MacDonald, J. Gusella, M. Macdonald, 1996, Annual review of medicine.

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

Jane S. Paulsen, T. Gillis, J. Mysore, 2018, American journal of human genetics.

Reduced penetrance of the Huntington's disease mutation.

M. MacDonald, J. Gusella, R. Myers, 1997, Human molecular genetics.

High prevalence of mefloquine-resistant falciparum malaria in eastern Thailand.

M. MacDonald, D. Wirth, K. Thimasarn, 1993, Bulletin of the World Health Organization.

The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination.

N E Morton, N. Morton, M. MacDonald, 1994, Human molecular genetics.

The direct screening of cosmid libraries with YAC clones.

M. MacDonald, H. Lehrach, J. Gusella, 1991, Nucleic acids research.

An Improved Approach to Prepare Human Brains for Research

M. MacDonald, A. McKee, E. Hedley‐Whyte, 1995, Journal of neuropathology and experimental neurology.

Randomized controlled trial of ethyl-eicosapentaenoic acid in Huntington disease: the TREND-HD study.

J. Jankovic, L. Seeberger, L. Raymond, 2008, Archives of neurology.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American Journal of Human Genetics.

1H NMR spectroscopy studies of Huntington's disease

B R Rosen, M. MacDonald, B. Rosen, 1998, Neurology.

Disruption of neurexin 1 associated with autism spectrum disorder.

M. Daly, F. Volkmar, M. MacDonald, 2008, American journal of human genetics.

High resolution time‐course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock‐in mice across multiple genetic backgrounds

John C. Earls, L. Hood, D. Geman, 2017, Human molecular genetics.

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.

P. Holmans, T. Gillis, J. Mysore, 2016, American journal of human genetics.

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.

Bin Zhang, T. Gillis, M. MacDonald, 2013, Human molecular genetics.

Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.

S. Haggarty, M. MacDonald, M. Moskowitz, 2011, Human molecular genetics.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

M. Daly, M. MacDonald, Andrew W. Kirby, 2012, American journal of human genetics.

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.

M. Rietschel, P. Sullivan, M. Fava, 2010, The American journal of psychiatry.

Clinical and genetic heterogeneity in benign hereditary chorea

B. D. de Vries, M. MacDonald, W. Arts, 2002, Neurology.

A novel G protein-coupled receptor kinase gene cloned from 4p16.3.

D. Church, M. MacDonald, C. Ambrose, 1992, Human molecular genetics.

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.

T. Gillis, J. Mysore, M. MacDonald, 2022, American journal of human genetics.

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

M. MacDonald, J. Gusella, C. Morton, 2005, Journal of Medical Genetics.

Risk factors for hepatitis C virus infection among injecting drug users in Sydney.

M. MacDonald, J. Kaldor, I. van Beek, 1994, Genitourinary medicine.

Expanding the Notion of Disease in Huntington’s Disease

M. MacDonald, J. Gusella, 2007, Biological Psychiatry.

Psychiatric Symptoms in Huntington's Disease before Diagnosis : The Predict-HD Study. Commentary

M. MacDonald, D. Langbehn, L. Beglinger, 2007 .

Huntington Disease-Linked Locus D4Slll Exposed as the C~-L-Iduronidase Gene

C. P. Morris, M. MacDonald, H. Lehrach, 1991 .

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.

M. MacDonald, J. Gusella, F. Persichetti, 1994, Human molecular genetics.

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

M. MacDonald, J. Gusella, S. Baxendale, 1990, American journal of human genetics.

Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington’s Disease

T. Gillis, M. MacDonald, V. Wheeler, 2024, Journal of Huntington's disease.

Modification of Huntington’s disease by short tandem repeats

T. Gillis, M. MacDonald, J. Gusella, 2024, Brain communications.

Highly Expandable Human iPS Cell–Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High‐Throughput Screening

S. Haggarty, M. MacDonald, D. Fass, 2017, Current protocols in human genetics.

The onset and prevalence of motor and psychiatric symptoms in Huntington’s disease

M. MacDonald, J. Gusella, Jong-Min Lee, 2020 .

A gene from chromosome 4p16.3 with similarity to a superfamily of transporter proteins.

D. Church, M. MacDonald, D. Housman, 1993, Human molecular genetics.

INITIATION OF TRANSCRIPTION OF YEAST MITOCHONDRIAL DNA

M. G. Koerkamp, M. MacDonald, H. Tabak, 1983 .

Genome-wide scan for Parkinson's disease

M. MacDonald, J. Growdon, J. Hubble, 2001, Neurology.

MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis.

M. MacDonald, K. Isselbacher, T. Shioda, 1998, Genomics.

A role for FAN1 in suppressing somatic CAG expansion, combined with the onset-delaying effect of the

T. Gillis, J. Mysore, M. MacDonald, 2020 .

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

M. MacDonald, D. Brunner, J. Gusella, 2016, Nature Biotechnology.

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age

M. MacDonald, H. Shill, J. Growdon, 2006, Neurology.

Huntingtin: Alive and Well and Working in Middle Management

M. MacDonald, 2003, Science's STKE.

Disruption of a Large Intergenic Noncoding Rna in Subjects with Neurodevelopmental Disabilities Accessed Terms of Use Detailed Terms

Michael F. Lin, J. Rosenfeld, S. Schwartz, 2022 .

Disruption of a Large Intergenic Noncoding Rna in Subjects with Neurodevelopmental Disabilities

S. Haggarty, M. MacDonald, S. Purcell, 2022 .

Randomized controlled trial of ethyl-eicosapentaenoic acid in Huntington disease: the TREND-HD study.

J. Jankovic, L. Seeberger, L. Raymond, 2008, Archives of neurology.

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.

M. MacDonald, I. Kohane, K. Coser, 2011, Human molecular genetics.

MIT Open Access

Amanda J. Kedaigle, M. MacDonald, Yumay Chen, 2022 .

Towards Standardizing Nomenclature in Huntington’s Disease Research

M. MacDonald, B. Leavitt, Emily C. Gantman, 2024, Journal of Huntington's disease.

Molecular genetics of Huntington's disease.

M. MacDonald, M. Duyao, M. Macdonald, 1993, Results and problems in cell differentiation.

A role for FAN1 in suppressing somatic CAG expansion, combined with the onset-delaying effect of the

T. Gillis, J. Mysore, M. MacDonald, 2022 .

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

S. Haggarty, M. MacDonald, S. Purcell, 2012, American journal of human genetics.

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study

T. Gillis, J. Mysore, M. MacDonald, 2008, Movement disorders : official journal of the Movement Disorder Society.

A recombination event that redefines the Huntington disease region.

F. Collins, M. MacDonald, R. Snell, 1992, American journal of human genetics.

Bmc Developmental Biology Inactivation of the Huntington's Disease Gene (hdh) Impairs Anterior Streak Formation and Early Patterning of the Mouse Embryo

M. MacDonald, M. Duyao, J. Woda, 2022 .

Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.

F. Collins, M. MacDonald, J. Gusella, 1992, Genomics.