Patrick Acuña

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Tatsiana Aneichyk, William T. Hendriks, Rachita Yadav et al. · Cell · 2018 · 236 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Recurrence and Outcomes of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Children

Yaron Finkelstein, Gordon S. Soon, Patrick Acuña et al. · PEDIATRICS · 2011 · 170 citations

Medicine, Infectious Diseases, Pediatrics +8

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in <i>TAF1</i>

D. Cristopher Bragg, Kotchaphorn Mangkalaphiban, Christine A. Vaine et al. · Proceedings of the National Academy of Sciences · 2017 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

Björn‐Hergen Laabs, Christine Klein, Jelena Pozojevic et al. · Nature Communications · 2021 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex

Tiziana Petrozziello, Alexandra N. Mills, Christine A. Vaine et al. · Neurobiology of Disease · 2020 · 40 citations · Full text

Life Sciences, Neurology, Neuroscience +17