Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis
Author(s)
Marilena Lauerer,
Jennifer Faber
Nicolas Casadei
Magda M. Santana
(...)
Luís Pereira de Almeida
(...)
ESMI Study Group
Publication date
julho, 2025
Keywords
ATXN2; Gene modifier; Genotype-phenotype correlation; MJD; SCA3
Details
Publication type: International peer reviewed paper
Publication: Acta Neuropathologica Communications
Volume: 13
Publisher: BMC
DOI: https://doi.org/10.1186/s40478-025-02074-0
Publication: Acta Neuropathologica Communications
Volume: 13
Publisher: BMC
DOI: https://doi.org/10.1186/s40478-025-02074-0