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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
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Base excision repair causes age-dependent accumulation of single-stranded DNA breaks that contribute to Parkinson disease pathology.
SenGupta T, Palikaras K, Esbensen YQ, Konstantinidis G, Galindo FJN, Achanta K, Kassahun H, Stavgiannoudaki I, Bohr VA, Akbari M, Gaare J, Tzoulis C, Tavernarakis N, Nilsen H.