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2. Imarisio, Alberto, Pilotto, Andrea, Lupini, Alessandro, Valente, Enza Maria, Padovani, Alessandro. 2024. Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report. In Parkinsonism & related disorders, 123, 106943. doi:10.1016/j.parkreldis.2024.106943. https://pubmed.ncbi.nlm.nih.gov/38555792/
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4. Madsen, Helena B, Pease, Louise I, Scanlan, Rebekah-Louise, Shanley, Daryl P, Bohr, Vilhelm A. 2023. The DNA repair enzyme, aprataxin, plays a role in innate immune signaling. In Frontiers in aging neuroscience, 15, 1290681. doi:10.3389/fnagi.2023.1290681. https://pubmed.ncbi.nlm.nih.gov/38161589/
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