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Research data . Audiovisual . 2018
Additional file 5: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Open Access
Authors:
McMillan, Hugh; Telegrafi, Aida; Singleton, Amanda; Cho, Megan; Lelli, Daniel; Lynn, Francis; Griffin, Julie; Asamoah, Alexander; Rinne, Tuula; Erasmus, Corrie; +20 more
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;
doi: 10.6084/m9.figshare.6823862 , 10.6084/m9.figshare.6823862.v1
doi: 10.6084/m9.figshare.6823862 , 10.6084/m9.figshare.6823862.v1
Publisher: figshare
Project: NWO | XCiDE: Crossing the Combu... (2300153186), CIHR , NIH | ROS MEMBRANE PROTEINS AND... (5R01EY002422-23)
Video S4. Patient 4 demonstrating chorea as well as ptosis and ophthalmoplegia. (MOV 2274 kb)
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Research data . Audiovisual . 2018
Additional file 4: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Open Access
Authors:
McMillan, Hugh; Telegrafi, Aida; Singleton, Amanda; Cho, Megan; Lelli, Daniel; Lynn, Francis; Griffin, Julie; Asamoah, Alexander; Rinne, Tuula; Erasmus, Corrie; +20 more
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;
doi: 10.6084/m9.figshare.6823844.v1 , 10.6084/m9.figshare.6823844
doi: 10.6084/m9.figshare.6823844.v1 , 10.6084/m9.figshare.6823844
Publisher: figshare
Project: NWO | XCiDE: Crossing the Combu... (2300153186), CIHR , NIH | ROS MEMBRANE PROTEINS AND... (5R01EY002422-23)
Video S3. Patient 4 demonstrating dystonic posturing of her arms. (MOV 1273 kb)
Average popularity
Average popularity In bottom 99%
Popularity: Citation-based measure reflecting the current impact.
View more details
Average influence
Average influence In bottom 99%
Influence: Citation-based measure reflecting the total impact.
View more details
addAdd to ORCID
Please grant OpenAIRE to access and update your ORCID works.
This Research product is the result of merged Research products in OpenAIRE.

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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
Open Access
Authors:
McMillan, Hugh; Telegrafi, Aida; Singleton, Amanda; Cho, Megan; Lelli, Daniel; Lynn, Francis; Griffin, Julie; Asamoah, Alexander; Rinne, Tuula; Erasmus, Corrie; +20 more
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;
doi: 10.6084/m9.figshare.6823829.v1 , 10.6084/m9.figshare.6823829
doi: 10.6084/m9.figshare.6823829.v1 , 10.6084/m9.figshare.6823829
Publisher: figshare
Project: NWO | XCiDE: Crossing the Combu... (2300153186), CIHR , NIH | ROS MEMBRANE PROTEINS AND... (5R01EY002422-23)
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)
Average popularity
Average popularity In bottom 99%
Popularity: Citation-based measure reflecting the current impact.
View more details
Average influence
Average influence In bottom 99%
Influence: Citation-based measure reflecting the total impact.
View more details
addAdd to ORCID
Please grant OpenAIRE to access and update your ORCID works.
This Research product is the result of merged Research products in OpenAIRE.

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3 Research products, page 1 of 1

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Additional file 5: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Additional file 4: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

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

3 Research products, page 1 of 1

Additional file 5: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Additional file 4: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

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

Filters

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Year range

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Funder (3)

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3 Research products, page 1 of 1

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Additional file 5: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Additional file 4: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

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

3 Research products, page 1 of 1

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Additional file 5: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Additional file 4: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

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

Canada
Research data
Research software
Other research products
Audiovisual
Netherlands Organisation for Scientific Research (NWO)