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
(...)
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