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Plos Genetics|January 25, 2018
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functionsZuchra Zakirova, Tomas Fanutza, Justine Bonet, et al.Annals of Neurology|July 12, 2002
Role of parkin mutations in 111 community-based patients with early-onset parkinsonismMartin Kann, Helfried Jacobs, Kathrin Mohrmann, et al.Developmental Medicine and Child Neurology|August 29, 2012
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxiaAllison Brashear, Jonathan W Mink, Deborah F Hill, et al.Genomics|February 14, 2004
The canine olfactory subgenomeTsviya Olender, Tania Fuchs, Chaim Linhart, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
Differences in Sex-Specific Frequency of Glucocerebrosidase Variant Carriers and Familial ParkinsonismRoberto A Ortega, Susan B Bressman, Deborah Raymond, et al.Neurobiology of Disease|August 20, 2019
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competitionElena Arystarkhova, Ihtsham U Haq, Timothy Luebbert, et al.Neuroimage. Clinical|December 23, 2015
Neural correlates of abnormal sensory discrimination in laryngeal dystoniaPichet Termsarasab, Ritesh A Ramdhani, Giovanni Battistella, et al.Journal of Neuroscience Research|April 3, 2003
TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stressJeffrey Hewett, Philipp Ziefer, Daniele Bergeron, et al.American Journal of Human Genetics|October 21, 2021
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelinAloysius Domingo, Rachita Yadav, Shivangi Shah, et al.Acta Neuropathologica|May 8, 2014
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblingsAdrian L Oblak, Matthew C Hagen, Kathleen J Sweadner, et al.Pageof 12