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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...

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Bibliografische gegevens
Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: Pappas, Samuel S, Liang, Chun-Chi, Kim, Sumin, Rivera, CheyAnne O, Dauer, William T
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2018
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Online toegang: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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