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Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration
Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron disorders characterized by progressive weakness and spasticity of the lower limbs. HSP type 11 (SPG11-HSP) is linked to pathogenic variants in the SPG11 gene and it represents the most frequent form of complex autosoma...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447516/ https://www.ncbi.nlm.nih.gov/pubmed/32355960 http://dx.doi.org/10.1093/brain/awaa099 |