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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25...
Autores principales: | , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822627/ https://www.ncbi.nlm.nih.gov/pubmed/20110243 http://dx.doi.org/10.1093/brain/awp325 |