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...

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Detalles Bibliográficos
Autores principales: Pozner, Tatyana, Regensburger, Martin, Engelhorn, Tobias, Winkler, Jürgen, Winner, Beate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Update
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

Internet

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

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