Now showing items 1-3 of 3

    • ATP1A3 Mutation in Adult Rapid-Onset Ataxia 

      Sweadner, Kathleen J.; Toro, Camilo; Whitlow, Christopher T.; Snively, Beverly M.; Cook, Jared F.; Ozelius, Laurie J.; Markello, Thomas C.; Brashear, Allison (Public Library of Science, 2016)
      A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several ...
    • Imaging Studies in Focal Dystonias: A Systems Level Approach to Studying a Systems Level Disorder 

      Blood, Anne J (Bentham Science Publishers, 2013)
      Focal dystonias are dystonias that affect one part of the body, and are sometimes task-specific. Brain imaging and transcranial magnetic stimulation techniques have been valuable in defining the pathophysiology of dystonias ...
    • Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias 

      Waugh, Jeff L.; Kuster, John K.; Levenstein, Jacob M.; Makris, Nikos; Multhaupt-Buell, Trisha J.; Sudarsky, Lewis R.; Breiter, Hans C.; Sharma, Nutan; Blood, Anne J. (Public Library of Science, 2016)
      Background: Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce ...