James F. Gusella
- A polymorphic DNA marker genetically linked to Huntington's disease
1983/11/01 by James F. Gusella, Nancy S. Wexler, P. Michael Conneally +11 · 10 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Chromosome #DNA #Disease #Gene #Genetic Neurodegenerative Diseases #Genetic marker #Genetics #Huntington's disease #Medicine #Mitochondrial Function and Pathology #Recombinant DNA
- 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, Jong‐Min Lee +43 · 1 citation
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genetic Neurodegenerative Diseases #Mitochondrial Function and Pathology #Muscle Physiology and Disorders