Marcy E. MacDonald
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993/03/01 by M MACDONALD, Marcy E. MacDonald · 15 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Allele #Biology #Coding region #Exon #Gene #Genetic Neurodegenerative Diseases #Genetics #Genetics and Neurodevelopmental Disorders #Haplotype #Myotonia #Myotonic dystrophy #Trinucleotide repeat expansion #Ubiquitin and proteasome pathways
- Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
2015/07/01 by Jong-Min Lee, Jong‐Min Lee, Vanessa C. Wheeler +39 · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Age of onset #Allele #Biology #Disease #Fungal and yeast genetics research #Gene #Genetic Neurodegenerative Diseases #Genetic association #Genetics #Genome-wide association study #Genotype #Huntington's disease #Internal medicine #Locus (genetics) #Medicine #Mendelian inheritance #Mitochondrial Function and Pathology #Single-nucleotide polymorphism #Trinucleotide repeat expansion
- CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset
2019/08/01 by Jong‐Min Lee, Kevin Correia, Jacob M. Loupe +35 · 2 citations
Neuroscience · Biochemistry, Genetics and Molecular Biology · #Genetic Neurodegenerative Diseases #Mitochondrial Function and Pathology #DNA Repair Mechanisms
- Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
2022/04/01 by Branduff McAllister, Jasmine Donaldson, Caroline S. Binda +31 · 1 citation
Neuroscience · Biochemistry, Genetics and Molecular Biology · #Genetic Neurodegenerative Diseases #Mitochondrial Function and Pathology #CRISPR and Genetic Engineering
- Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals
1995/02/01 by G. Bernhard Landwehrmeyer, Sandra McNeil, Leon Dure +16 · 1 citation
Neuroscience · Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic Neurodegenerative Diseases #Mitochondrial Function and Pathology #Neurological disorders and treatments
- Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
2025/06/01 by Group 1, Jong-Min Lee, Zachariah L. McLean +43 · 1 citation
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genetic Neurodegenerative Diseases #Mitochondrial Function and Pathology #Muscle Physiology and Disorders