Marcy E. Macdonald
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Biology
Marcy E. Macdonald's Degrees
- PhD Genetics Stanford University
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(Suggest an Edit or Addition)Marcy E. Macdonald's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes (1993) (7826)
- Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection (1996) (3208)
- Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease (2013) (1402)
- Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease (2001) (1325)
- A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor (1993) (1146)
- Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules (2004) (1125)
- Trinucleotide repeat length instability and age of onset in Huntington's disease (1993) (1083)
- Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease (1993) (732)
- Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. (2004) (713)
- CAG repeat number governs the development rate of pathology in Huntington's disease (1997) (623)
- Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells. (2000) (601)
- Disruption of neurexin 1 associated with autism spectrum disorder. (2008) (573)
- Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion (1997) (543)
- Polyglutamine-Expanded Human Huntingtin Transgenes Induce Degeneration of Drosophila Photoreceptor Neurons (1998) (528)
- Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release. (2004) (487)
- Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. (2000) (484)
- A compendium of gene expression in normal human tissues. (2001) (480)
- Regulation of Intracellular Accumulation of Mutant Huntingtin by Beclin 1* (2006) (455)
- Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes. (2012) (431)
- Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease (2015) (420)
- Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease (2000) (408)
- Huntingtin interacts with a family of WW domain proteins. (1998) (398)
- Neuropathogenic Forms of Huntingtin and Androgen Receptor Inhibit Fast Axonal Transport (2003) (320)
- Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron. (1999) (314)
- HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. (2005) (296)
- Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models (2009) (292)
- Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. (2003) (285)
- Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins (1998) (281)
- Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat (1994) (269)
- CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion (2012) (263)
- Widespread Disruption of Repressor Element-1 Silencing Transcription Factor/Neuron-Restrictive Silencer Factor Occupancy at Its Target Genes in Huntington's Disease (2007) (263)
- Genetic modifiers of Huntington's disease (2014) (260)
- Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis* (2006) (257)
- Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. (2000) (237)
- CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset (2019) (236)
- Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration (2012) (230)
- Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals (1995) (222)
- Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. (2003) (216)
- Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. (2002) (210)
- Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. (2016) (204)
- Mutations in TITF-1 are associated with benign hereditary chorea. (2002) (203)
- Characterization of the G Protein-coupled Receptor Kinase GRK4 (1996) (201)
- Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes (2009) (190)
- Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. (2002) (190)
- Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. (2002) (187)
- An ovine transgenic Huntington's disease model. (2010) (186)
- RESEARCH ARTICLE: Systematic Assessment of BDNF and Its Receptor Levels in Human Cortices Affected by Huntington's Disease (2007) (182)
- Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice (2017) (172)
- Heterogeneous Topographic and Cellular Distribution of Huntingtin Expression in the Normal Human Neostriatum (1997) (169)
- Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (2005) (167)
- TBX-3, the Gene Mutated in Ulnar-Mammary Syndrome, Is a Negative Regulator of p19 ARF and Inhibits Senescence* (2002) (165)
- The Huntington's disease candidate region exhibits many different haplotypes (1992) (165)
- Huntingtin facilitates polycomb repressive complex 2 (2009) (160)
- Quantitative neuropathological changes in presymptomatic Huntington's disease (2001) (159)
- Functionally defective germline variants of sialic acid acetylesterase in autoimmunity (2010) (158)
- A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. (2003) (155)
- The serum‐ and glucocorticoid‐induced kinase SGK inhibits mutant huntingtin‐induced toxicity by phosphorylating serine 421 of huntingtin (2004) (151)
- Trinucleotide repeat length and progression of illness in Huntington's disease. (1994) (148)
- 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* (2003) (147)
- Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation (2005) (147)
- Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice (2006) (147)
- Rrs1 Is Involved in Endoplasmic Reticulum Stress Response in Huntington Disease* (2009) (146)
- RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression (2015) (137)
- Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis (2004) (137)
- Cholesterol Defect Is Marked across Multiple Rodent Models of Huntington's Disease and Is Manifest in Astrocytes (2010) (135)
- Huntington's disease: seeing the pathogenic process through a genetic lens. (2006) (134)
- Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. (2006) (133)
- The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. (2001) (127)
- Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere (1987) (122)
- Huntingtin inhibits caspase‐3 activation (2006) (121)
- The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. (2016) (119)
- Huntington's disease: the case for genetic modifiers (2009) (117)
- Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease (2006) (117)
- miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) (114)
- The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset (2007) (113)
- Thalamocortical neuron loss and localized astrocytosis in the Cln3 Δex7/8 knock-in mouse model of Batten disease (2005) (110)
- Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. (2008) (107)
- A DNA segment encoding two genes very tightly linked to Huntington's disease. (1987) (104)
- Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. (2000) (103)
- Huntington's disease: translating a CAG repeat into a pathogenic mechanism (1996) (102)
- Normal and Expanded Huntington’s Disease Gene Alleles Produce Distinguishable Proteins Due to Translation Across the CAG Repeat (1995) (102)
- Frataxin gene of Friedreich's ataxia is targeted to mitochondria (1997) (102)
- A novel approach to investigate tissue-specific trinucleotide repeat instability (2010) (99)
- Huntington's disease–like 2 (HDL2) in North America and Japan (2004) (97)
- A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. (2012) (97)
- Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington’s disease (2014) (95)
- A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene (1993) (95)
- MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease Pathogenesis (2014) (94)
- PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. (2002) (91)
- Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway. (2004) (91)
- Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice. (2006) (90)
- Recombination events suggest potential sites for the Huntington's disease gene (1989) (88)
- CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion (2012) (87)
- Differential Expression of Normal and Mutant Huntington's Disease Gene Alleles (1996) (86)
- Mechanoenzymatic Cleavage of the Ultralarge Vascular Protein von Willebrand Factor (2009) (84)
- High resolution localization of recombination hot spots using sperm typing (1994) (84)
- Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16 (2004) (84)
- Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains (1994) (84)
- Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study (2006) (83)
- Structure and function of human tissue‐type plasminogen activator (t‐PA) (1986) (81)
- Huntingtin: a single bait hooks many species (1998) (79)
- Unbiased Gene Expression Analysis Implicates the huntingtin Polyglutamine Tract in Extra-mitochondrial Energy Metabolism (2007) (78)
- CCR2-64I Polymorphism Is Not Associated with Altered CCR5 Expression or Coreceptor Function (1999) (77)
- Mouse Huntington's disease gene homolog (Hdh) (1994) (76)
- Complex patterns of linkage disequilibrium in the Huntington disease region. (1991) (75)
- Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation. (1990) (74)
- Huntington's disease. (1995) (73)
- A modifier of Huntington's disease onset at the MLH1 locus (2017) (71)
- Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. (1988) (69)
- Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons (1997) (68)
- HD CAG-correlated gene expression changes support a simple dominant gain of function. (2011) (68)
- Randomized controlled trial of ethyl-eicosapentaenoic acid in Huntington disease: the TREND-HD study. (2008) (67)
- Insoluble TATA-binding protein accumulation in Huntington's disease cortex. (2002) (64)
- Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. (2012) (64)
- Deficiency of Huntingtin Has Pleiotropic Effects in the Social Amoeba Dictyostelium discoideum (2011) (63)
- Huntingtin: Alive and Well and Working in Middle Management (2003) (63)
- Mutant Huntingtin Forms in Vivo Complexes with Distinct Context-Dependent Conformations of the Polyglutamine Segment (1999) (63)
- Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. (2012) (62)
- Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells (2011) (60)
- Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases (2017) (59)
- Huntington's disease: CAG genetics expands neurobiology (1995) (59)
- Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. (2002) (58)
- The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts? (1997) (58)
- Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (2012) (57)
- Erythroleukemia induction by replication-competent type C viruses cloned from the anemia- and polycythemia-inducing isolates of Friend leukemia virus (1980) (55)
- A human single-chain Fv intrabody preferentially targets amino-terminal huntingtin fragments in striatal models of Huntington's disease (2005) (54)
- Anemia- and polycythemia-inducing isolates of Friend spleen focus- forming virus. Biological and molecular evidence for two distinct viral genomes (1980) (54)
- Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. (2016) (54)
- An over-expression system for characterizing Ppt1 function in Drosophila (2003) (51)
- Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. (2010) (50)
- Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27–35 CAG) (2009) (50)
- Assessment of cortical and striatal involvement in 523 Huntington disease brains (2012) (49)
- Clustering of multiallele DNA markers near the Huntington's disease gene. (1989) (49)
- Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo (2005) (48)
- Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. (2015) (48)
- Increased recombination adjacent to the Huntington disease-linked D4S10 marker. (1991) (47)
- Transcriptional regulatory networks underlying gene expression changes in Huntington's disease (2018) (45)
- Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. (2013) (44)
- Metabolic disruption identified in the Huntington’s disease transgenic sheep model (2016) (43)
- Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis (2003) (43)
- Tissue Transglutaminase Selectively Modifies Proteins Associated with Truncated Mutant Huntingtin in Intact Cells (2001) (42)
- Mapping of cosmid clones in Huntington's disease region of chromosome 4 (1991) (42)
- Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. (1988) (41)
- Palmitoyl-Protein Thioesterase 1 Deficiency in Drosophila melanogaster Causes Accumulation of Abnormal Storage Material and Reduced Life Span (2006) (41)
- Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death (2013) (40)
- Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice (2016) (40)
- Meclizine is neuroprotective in models of Huntington's disease. (2011) (40)
- A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington’s Disease CAG Knock-In Mice (2013) (38)
- Population-specific genetic modification of Huntington's disease in Venezuela (2018) (37)
- Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis. (2011) (35)
- Molecular investigation of TBP allele length: a SCA17 cellular model and population study (2003) (35)
- The direct screening of cosmid libraries with YAC clones. (1991) (34)
- Functional analysis of the human tissue-type plasminogen activator protein: the light chain. (1986) (34)
- Huntington’s Disease (2007) (33)
- Neocortical neurons cultured from mice with expanded cag repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults (2003) (33)
- Highly Expandable Human iPS Cell–Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High‐Throughput Screening (2017) (33)
- Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (32)
- Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. (2020) (31)
- Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington’s disease (2006) (30)
- High resolution time‐course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock‐in mice across multiple genetic backgrounds (2017) (29)
- Detection by PCR of a VNTR polymorphism at D4S43. (1991) (29)
- Clonal analysis of the late stages of erythroleukemia induced by two distinct strains of Friend leukemia virus (1981) (29)
- No post-genetics era in human disease research (2002) (29)
- Bioenergetic deficits in Huntington’s disease iPSC-derived neural cells and rescue with glycolytic metabolites (2019) (29)
- Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. (2011) (29)
- Clonal analysis of early and late stages of erythroleukemia induced by molecular clones of integrated spleen focus-forming virus. (1981) (28)
- Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. (2018) (28)
- The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease. (2015) (27)
- Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out (2020) (27)
- Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene. (1989) (27)
- 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. (1989) (27)
- New DNA markers in the Huntington's disease gene candidate region (1991) (26)
- Huntington’s Disease Pathogenesis: Two Sequential Components (2021) (26)
- Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease (2021) (25)
- Genetic analysis of the GRIK2 modifier effect in Huntington's disease (2006) (24)
- 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. (2013) (23)
- Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease (2002) (23)
- IT15 gene expression in fetal human brain (1994) (23)
- Huntington disease-linked locusD4S111 exposed as the α-l-iduronidase gene (1991) (22)
- Sequence-Level Analysis of the Major European Huntington Disease Haplotype. (2015) (22)
- HttQ111/+ Huntington’s Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction (2018) (21)
- Erythrocyte membrane antigen expression during friend cell differentiation: Analysis of two non‐inducible variants (1978) (21)
- Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease (2019) (20)
- HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation (2015) (20)
- TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. (2012) (20)
- Candidate loci for Zimmermann–Laband syndrome at 3p14.3 (2007) (19)
- Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients (2012) (19)
- Haplotype-based stratification of Huntington's disease (2017) (18)
- Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington’s disease (2016) (17)
- The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development. (2015) (16)
- Different pseudotypesof friend spleen focus-forming virus induce polycythemia and erythropoietin-independent colony formation in serum-free medium (1981) (16)
- Late-onset and typical Huntington disease families from Crete have distinct genetic origins. (2006) (15)
- Host control of sequences specific to Friend erythroleukemia virus in normal and leukemic mice. (1980) (14)
- Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset (2022) (13)
- Growth in high-K+ medium induces Friend cell differentiation. (1979) (13)
- Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4 (1987) (13)
- Genetic criteria for Huntington's disease pathogenesis (2007) (13)
- Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity (2018) (13)
- Mutations causing Lopes-Maciel-Rodan Syndrome are huntingtin hypomorphs. (2021) (12)
- Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels (2017) (12)
- Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (11)
- A genetic linkage map of the chromosome 4 short arm (1993) (10)
- Hypomorphic mutation of the mouse Huntington’s disease gene orthologue (2018) (10)
- Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells. (2006) (10)
- The HD Mutation Does Not Alter Neuronal Death in the Striatum of HdhQ92 Knock-in Mice after Mild Focal Ischemia (2002) (9)
- Different pseudotypes of Friend spleen focus-forming virus induce polycythemia and erythropoietin-independent colony formation in serum-free medium. (1981) (9)
- Potential molecular consequences of transgene integration: The R6/2 mouse example (2017) (9)
- Characterization of Mouse Striatal Precursor Cell Lines Expressing Functional Dopamine Receptors (2006) (9)
- Genetic modifiers of Huntington's disease differentially influence motor and cognitive domains (2022) (8)
- Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study (2008) (7)
- Linkage, but not gene order, of homologous loci, including α-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes (2004) (7)
- Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. (2014) (6)
- Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA (2019) (6)
- Huntington's disease: Nearly four decades of human molecular genetics. (2021) (6)
- Isolation of polymorphic DNA fragments from human chromosome 4. (1987) (6)
- Plans for HDBase—a research community website for Huntington's Disease (2003) (5)
- Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder (2015) (5)
- Assignment of the human gene encoding eukaryotic initiation factor 4E (EIF4E) to the region q21-25 on chromosome 4 (1997) (5)
- Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression (2016) (5)
- INITIATION OF TRANSCRIPTION OF YEAST MITOCHONDRIAL DNA (1983) (5)
- Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p 16.3 (1997) (5)
- The early enhancer-promoter of BKV and host range for transformation. (1987) (5)
- Chromosome substitution strain assessment of a Huntington’s disease modifier locus (2015) (4)
- Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease (2015) (4)
- The α-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse Chromosome 11 (2004) (4)
- Expanding the Notion of Disease in Huntington’s Disease (2007) (4)
- Huntington Disease-Linked Locus D4Slll Exposed as the C~-L-Iduronidase Gene (1991) (3)
- Discrepancy resolved (1993) (3)
- Important but not Enough - Information about HD Related Topics and Peer and Professional Support for Young Adults from HD Families. (2016) (3)
- Identification of compounds which inhibit cytotoxicity associated with mutant Huntingtin protein expression (2011) (3)
- FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease (2021) (3)
- Genome-scale transcriptional regulatory network models for the mouse and human striatum predict roles for SMAD3 and other transcription factors in Huntington’s disease (2016) (3)
- Demonstration with monoclonal antibody of the glycoprotein nature of Thy-1.2 alloantigen. (1980) (2)
- Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease. (2021) (2)
- Genetic overlap between psychiatric disorders and neuropsychiatric symptoms in HD (2019) (2)
- Genetic overlap between psychiatric disorders and neuropsychiatric symptoms in HD (2019) (2)
- EFFECT OF MUTANT HUNTINGTIN ON STRIATAL NEURONS DIFFERENTIATED FROM HUNTINGTON’S DISEASE INDUCED PLURIPOTENT STEM CELLS (2011) (2)
- Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration. (2022) (2)
- Two domains within the early coding region of SV40 involved in the transformation of human fibroblasts. (1987) (2)
- Correction (2020) (2)
- Molecular genetics of human chromosome 4. (1986) (2)
- HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes (2014) (2)
- Huntingtin-Associated Proteins (2001) (2)
- MboI RFLP at the D4S43 (C4H) locus. (1991) (1)
- ALZHEIMER DISEASE DOES NOT PROTECT THE NEOSTRIATUM IN COMBINED CASES OF HUNTINGTON (HD) AND ALZHEIMER DISEASE (AD) (1997) (1)
- Characterisation of a transgenic ovine model of Huntington’s disease (2011) (1)
- NONAGENARIANS WITH HUNTINGTON DISEASE (HD) HAVE LOW CAG REPEATS (1999) (1)
- A Multi-Omic Huntington’s Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis (2021) (1)
- The mild neurodegenerative phenotype of CLN3(Delta ex7/8) knock-in mice is accompanied by prominent astrocytosis at the advanced stages of murine JNCL (2005) (1)
- Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1 (2021) (1)
- The onset and prevalence of motor and psychiatric symptoms in Huntington’s disease (2020) (1)
- miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) (1)
- Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA (2019) (0)
- Subject Index Vol. 28, 2006 (2006) (0)
- Huntingtin Facilitates Polycomb Repressive Complex 2 Citation (2022) (0)
- E01 CAG Repeat Length Predicts Rate of Striatal Atrophy, but Relationship is Nonlinear (2014) (0)
- Contents, Vol. 28, 1987 (1987) (0)
- Developmental Genome Anatomy Project Breakpoint localization updates (2001) (0)
- Huntingtin DNA, protein, and using (1994) (0)
- Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) (2008) (0)
- CAG)n trinucleotide repeat is expanded in a novel gene in Huntingtonʼs disease (1995) (0)
- Poster 16: Genetic Approach to Huntington's Disease Therapeutics (2010) (0)
- Molecular genetics ofhumanchromosome 4 (1986) (0)
- Title Sequence-Level Analysis of the Major European Huntington Disease Haplotype Permalink (0)
- HD Repeat Determines the Rate of Neuropathological Change (2008) (0)
- Erratum: Huntington's disease-like 2 (HDL2) in North America and Japan (Annals of Neurology (November 2004) 56 (670-674)) (2004) (0)
- Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (0)
- Gametic butnotsomatic instability ofCAG repeat length inHuntington's disease (1993) (0)
- A11 Induced pluripotent stem cells for basic and translational research on HD (2012) (0)
- Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1 (2022) (0)
- Third Annual Huntington Disease Clinical Research Symposium (2011) (0)
- C10 Shared genetic liability between neuropsychiatric disorders and psychiatric symptoms in hd (2018) (0)
- Drosophila melanogaster Lacking the Lysosomal Enzyme Palmitoyl-Protein Thioesterase 1 Accumulate Aberrant Ultrastructural Deposits in the Form of Laminar Cytoplasmic Bodies (2005) (0)
- C04 Protein coding tandem repeat in TCERG1 modifies huntington’s disease onset (2021) (0)
- Chromosome substitution strain assessment of a Huntington’s disease modifier locus (2015) (0)
- Modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550 (2022) (0)
- Variance in age of onset of Huntington's disease that is independent of CAG repeat length remains highly heritable. (2001) (0)
- 32. Distinct features of disease phenotypes in two genetic models of NCL (2010) (0)
- Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington’s disease (2017) (0)
- Subject Index, Vol. 28, 1987 (1987) (0)
- Contents Vol. 28, 2006 (2006) (0)
- The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington’s disease (2020) (0)
- Third Annual Huntington Disease Clinical Research Symposium : Organized by the Huntington Study Group (Huntington Study Group Abstracts) (2010) (0)
- Reply (1998) (0)
- Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. (2016) (0)
- Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (0)
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What Schools Are Affiliated With Marcy E. Macdonald?
Marcy E. Macdonald is affiliated with the following schools:
