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Journal of Huntington'S Disease|February 13, 2021
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion DisordersAmit L Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, et al.Nature Structural & Molecular Biology|August 17, 2010
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locusJohn D Cleary, Stéphanie Tomé, Arturo López Castel, et al.Human Molecular Genetics|November 6, 2013
Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or ageAmanda G Mason, Stephanie Tomé, Jodie P Simard, et al.Biorxiv : the Preprint Server for Biology|June 19, 2023
Cell Type Specific CAG Repeat Expansions and Toxicity of Mutant Huntingtin in Human Striatum and CerebellumKert Mätlik, Matthew Baffuto, Laura Kus, et al.Plos Genetics|March 8, 2013
MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease miceStéphanie Tomé, Kevin Manley, Jodie P Simard, et al.Biochemistry|January 24, 2013
Interconverting conformations of slipped-DNA junctions formed by trinucleotide repeats affect repair outcomeMeghan M Slean, Kaalak Reddy, Bin Wu, et al.Nature Neuroscience|April 21, 2025
Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genesŁukasz J Sznajder, Mahreen Khan, Adam Ciesiołka, et al.Plos Genetics|November 15, 2021
ATRX proximal protein associations boast roles beyond histone depositionWilliam A Scott, Erum Z Dhanji, Boris J A Dyakov, et al.Biorxiv : the Preprint Server for Biology|December 19, 2025
Striatal pathology in Spinocerebellar Ataxia Type 1 mice: A comparative study with Huntington's diseasePragya Goel, Praseuth Yang, Lisa Duvick, et al.Human Molecular Genetics|December 20, 2002
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic miceRandell T Libby, Darren G Monckton, Ying-Hui Fu, et al.Pageof 10