Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

See Dasgupta et al. (doi:10.1093/awv237) for a scientific commentary on this article. Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 muta...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Brain
Prif Awduron: Shahni, Rojeen, Cale, Catherine M., Anderson, Glenn, Osellame, Laura D., Hambleton, Sophie, Jacques, Thomas S., Wedatilake, Yehani, Taanman, Jan-Willem, Chan, Emma, Qasim, Waseem, Plagnol, Vincent, Chalasani, Annapurna, Duchen, Michael R., Gilmour, Kimberly C., Rahman, Shamima
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2015
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5808733/
https://ncbi.nlm.nih.gov/pubmed/26122121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv182
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