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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23042231
Abstract: X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and alters splicing in…
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Keywords:
dystonia parkinsonism;
transcriptional alterations;
linked dystonia;
parkinsonism ... See more keywords