Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia
Hereditary spastic paraplegias are a group of inherited motor neuron diseases characterized by progressive paraparesis and spasticity. Mutations in the spastic paraplegia gene SPG11, encoding spatacsin, cause an autosomal-recessive disease trait; however, the precise knowledge about the role of spat...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140466/ https://www.ncbi.nlm.nih.gov/pubmed/24794856 http://dx.doi.org/10.1093/hmg/ddu200 |