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TorsinA dysfunction causes persistent neuronal nuclear pore defects
A critical challenge to deciphering the pathophysiology of neurodevelopmental disease is identifying which of the myriad abnormalities that emerge during CNS maturation persist to contribute to long-term brain dysfunction. Childhood-onset dystonia caused by a loss-of-function mutation in the AAA+ pr...
Uloženo v:
| Vydáno v: | Hum Mol Genet |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886148/ https://ncbi.nlm.nih.gov/pubmed/29186574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx405 |
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