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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; +23 Authors
McMillan, Hugh; Telegrafi, Aida; Singleton, Amanda; Cho, Megan; Lelli, Daniel; Lynn, Francis; Griffin, Julie; Asamoah, Alexander; Rinne, Tuula; Erasmus, Corrie; Koolen, David; Haaxma, Charlotte; Keren, Boris; Doummar, Diane; Mignot, Cyril; Islay Thompson; Velsher, Lea; Mohammadreza Dehghani; Mehrjardi, Mohammad Vahidi; Maroofian, Reza; Tchan, Michel; Simons, Cas; Christodoulou, John; MartĂN-HernĂĄndez, Elena; Sacoto, Maria Guillen; Henderson, Lindsay; McLaughlin, Heather; Molday, Laurie; Molday, Robert; Yoon, Grace;
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)
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Funded by
NWO| XCiDE: Crossing the Combustion modes in Diesel Engines, CIHR, NIH| ROS MEMBRANE PROTEINS AND RETINAL DEGENERATIVE DISEASES
Project
- Funder: Netherlands Organisation for Scientific Research (NWO) (NWO)
- Project Code: 2300153186
Project
- Funder: Canadian Institutes of Health Research (CIHR)
Project
- Funder: National Institutes of Health (NIH)
- Project Code: 5R01EY002422-23
- Funding stream: NATIONAL EYE INSTITUTE
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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)