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of 3
pro vyhledávání: '"Joseph Caporale"'
Autor:
Maura Schwartz, Alex Campbell, Joseph Caporale, Megan Baird, Isabella Palazzo, Shibi Likhite, Andrew Fischer, Kathrin Meyer
Publikováno v:
Proceedings, Vol 71, Iss 1, p 5 (2020)
Batten Disease is a fatal lysosomal storage disorder characterized by cognitive and [...]
Externí odkaz:
https://doaj.org/article/5232a16d91ed4005a9ad94e87c7e1d51
Autor:
Maura Schwartz, Alex Campbell, Joseph Caporale, Megan Baird, Isabella Palazzo, Shibi Likhite, Andrew Fischer, Kathrin Meyer
Publikováno v:
Proceedings, Vol 71, Iss 5, p 5 (2021)
NEDAMSS is a newly discovered neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures. The disease is caused by heterozygous mutations in the Interferon Regulatory Factor 2 Binding Protein-Like (IRF2BPL) gene. IRF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7297c288608e32049c231fa360ae6f3e
https://www.mdpi.com/2504-3900/71/1/5
https://www.mdpi.com/2504-3900/71/1/5
Autor:
Alex Campbell, Joseph Caporale, Shibi Likhite, Kathrin Meyer, Megan Baird, Maura Schwartz, Isabella Palazzo, Andy J. Fischer
Publikováno v:
Proceedings of 1st International Electronic Conference on Brain Sciences.
Batten Disease is a fatal, lysosomal storage disorder characterized by cognitive and motor deficits, vision impairments, and seizures. Loss of vision is a hallmark of 10 of the 13 Batten Disease subtypes. Our group has pioneered AAV9 gene therapy tre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a1448142ee9c8c6e17641c9d97ba47d
https://doi.org/10.3390/iecbs-08110
https://doi.org/10.3390/iecbs-08110