A novel ATP13A2 variant causing complicated hereditary spastic paraplegia
Author:
Funder
Science and Technology Program of Zhejiang Province
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10072-024-07334-w.pdf
Reference10 articles.
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4. Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schols L, Poppel T, Mollerup Sorensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schule R (2017) Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain 140(2):287–305. https://doi.org/10.1093/brain/aww307
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1. Nigral ATP13A2 depletion induces Parkinson’s disease-related neurodegeneration in a pilot study in non-human primates;npj Parkinson's Disease;2024-08-01
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