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Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model
Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity and weakness in the lower extremities that result from length-dependent central to peripheral axonal degeneration. Mutations in the non-imprinted Prader-Willi/Angelman syndrome locus 1 (NIPA1) transmembrane protein cau...
Autores principales: | Watanabe, Fumihiro, Arnold, William D., Hammer, Robert E., Ghodsizadeh, Odelia, Moti, Harmeet, Schumer, Mackenzie, Hashmi, Ahmed, Hernandez, Anthony, Sneh, Amita, Sahenk, Zarife, Kisanuki, Yaz Y. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814936/ https://www.ncbi.nlm.nih.gov/pubmed/24128679 http://dx.doi.org/10.1097/NEN.0000000000000000 |
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