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Brain : a Journal of Neurology|February 7, 2007
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 geneAllison Brashear, William B Dobyns, Patricia de Carvalho Aguiar, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 28, 2019
Cervical dystonia incidence and diagnostic delay in a multiethnic populationSara C LaHue, Kathleen Albers, Samuel Goldman, et al.
Neuron|December 13, 2016
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for DystoniaJoseph E Rittiner, Zachary F Caffall, Ricardo Hernández-Martinez, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 13, 2017
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1D Cristopher Bragg, Kotchaphorn Mangkalaphiban, Christine A Vaine, et al.
Neurobiology of Disease|August 3, 2020
Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortexTiziana Petrozziello, Alexandra N Mills, Christine A Vaine, et al.
Neuron|March 23, 2021
Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophreniaTodd Lencz, Jin Yu, Raiyan Rashid Khan, et al.
Annals of Neurology|April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonismAna Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.
Plos One|December 14, 2020
SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 geneTiziana Petrozziello, Amanda M Dios, Kaly A Mueller, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's DiseaseDaniele Mattei, Erica Brophy, Mikaela Rosen, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2025
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonismAlan Mejia Maza, Madison Hincher, Kevin Correia, et al.
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