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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Detalhes bibliográficos
Publicado no:Brain
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Original Articles
Acesso em linha: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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