research data . Audiovisual . 2018

Additional file 2: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

McMillan, Hugh; Telegrafi, Aida; Singleton, Amanda; Cho, Megan; Lelli, Daniel; Lynn, Francis; Griffin, Julie; Asamoah, Alexander; Rinne, Tuula; Erasmus, Corrie; ...
Open Access
  • Published: 01 Jan 2018
  • Publisher: figshare
Abstract
Video S1. Patient 1 (age 4Â years old) demonstrates chorea of her head, upper and lower extremities characteristic of patients with ATP8A2 mutations. (MOV 7783 kb)
Funded by
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
,
NIH| ROS MEMBRANE PROTEINS AND RETINAL DEGENERATIVE DISEASES
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01EY002422-23
  • Funding stream: NATIONAL EYE INSTITUTE
,
NWO| XCiDE: Crossing the Combustion modes in Diesel Engines
Project
  • Funder: Netherlands Organisation for Scientific Research (NWO) (NWO)
  • Project Code: 2300153186
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Open Access
figshare
Audiovisual . 2018
Provider: Datacite
Open Access
figshare
Audiovisual . 2018
Provider: Datacite
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