[PDF][PDF] Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly

…, S Cantsilieris, KM Munson, EE Eichler, P Acuña… - Cell, 2018 - cell.com
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is
endemic to the Philippines and is associated with a founder haplotype. We integrated multiple …

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

…, A Cheng, CT Russo, M Ang, P Acuña… - Proceedings of the …, 2017 - National Acad Sciences
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease associated with an
antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1. …

Recurrence and outcomes of Stevens-Johnson syndrome and toxic epidermal necrolysis in children

Y Finkelstein, GS Soon, P Acuna, M George… - …, 2011 - publications.aap.org
OBJECTIVES: To report clinical course, etiology, management, and long-term outcomes of
children suffering from Stevens-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN). …

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

…, GPA Legarda, MS Velasco-Andrada, PJ Acuña… - Neurobiology of …, 2020 - Elsevier
Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent
findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) …

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism

…, A Hakoum, ML Supnet, P Acuña… - Movement …, 2021 - Wiley Online Library
Background X‐linked dystonia‐parkinsonism is a rare neurological disease endemic to the
Philippines. Dystonic symptoms appear in males at the mean age of 40 years and progress …

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

…, J Quismundo, P Otto, P Acuna… - Nature …, 2021 - nature.com
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of …

[HTML][HTML] Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

…, NG Ganza-Bautista, JBB Lagarde, PJ Acuña… - Acta neuropathologica …, 2022 - Springer
X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative
disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The …

Establishing a natural history of X-linked dystonia parkinsonism

P Acuna, ML Supnet-Wells, NA Spencer… - Brain …, 2023 - academic.oup.com
X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men
whose mothers originate from the island of Panay, Philippines. Current evidence indicates …

[HTML][HTML] SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene

…, GPA Legarda, MS Velasco-Andrada, PJ Acuña… - PLoS …, 2020 - journals.plos.org
X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an
insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1. This SVA …

Voice and swallowing dysfunction in X‐linked dystonia parkinsonism

PC Song, H Le, P Acuna, JKP De Guzman… - The …, 2020 - Wiley Online Library
Objectives To systematically characterize and describe voice and swallowing manifestations
in patients with X‐linked dystonia parkinsonism (XDP) and correlate with quality‐of‐life (…