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Stem Cell Reports|June 6, 2017
THAP1: Role in Mouse Embryonic Stem Cell Survival and DifferentiationFrancesca Aguilo, Zuchra Zakirova, Katie Nolan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 7, 2010
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletionPatricia De Carvalho Aguiar, Tania Fuchs, Vanderci Borges, et al.
Neuron|July 21, 2004
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonismPatricia de Carvalho Aguiar, Kathleen J Sweadner, John T Penniston, et al.
JAMA Neurology|May 31, 2017
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive DystoniaKatja Lohmann, Claire Redin, Holger Tönnies, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 19, 2020
Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case ExampleMartje G Pauly, Marta Ruiz López, Ana Westenberger, et al.
JAMA Network Open|April 21, 2021
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease ProgressionRoberto A Ortega, Cuiling Wang, Deborah Raymond, et al.
NPJ Parkinson'S Disease|December 7, 2023
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's diseaseGabriel Miltenberger-Miltenyi, Roberto A Ortega, Aloysius Domingo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 27, 2021
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic ReviewLara M Lange, Johanna Junker, Sebastian Loens, et al.
Molecular Therapy. Nucleic Acids|June 6, 2020
Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell FunctionLilian Cruz, Bence György, Pike See Cheah, et al.
Neurology|September 18, 2020
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic ObservationsJulien F Bally, Sarah Camargos, Camila Oliveira Dos Santos, et al.
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