[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 …
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. …
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). …
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) …
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 …
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 …
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 …
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 …
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 …
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 (…
in patients with X‐linked dystonia parkinsonism (XDP) and correlate with quality‐of‐life (…