Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performe...

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Veröffentlicht in:Brain
Hauptverfasser: Estrada-Cuzcano, Alejandro, Martin, Shaun, Chamova, Teodora, Synofzik, Matthis, Timmann, Dagmar, Holemans, Tine, Andreeva, Albena, Reichbauer, Jennifer, De Rycke, Riet, Chang, Dae-In, van Veen, Sarah, Samuel, Jean, Schöls, Ludger, Pöppel, Thorsten, Mollerup Sørensen, Danny, Asselbergh, Bob, Klein, Christine, Zuchner, Stephan, Jordanova, Albena, Vangheluwe, Peter, Tournev, Ivailo, Schüle, Rebecca
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2017
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5278306/
https://ncbi.nlm.nih.gov/pubmed/28137957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww307
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