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Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subsequent intellectual disability, secondary microcephaly, a...

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Detalles Bibliográficos
Autores principales:	Chen, Xin, Dong, Thomas, Hu, Yuhui, De Pace, Raffaella, Mattera, Rafael, Eberhardt, Kathrin, Ziegler, Marvin, Pirovolakis, Terry, Sahin, Mustafa, Bonifacino, Juan S., Ebrahimi-Fakhari, Darius, Gray, Steven J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178841/ https://www.ncbi.nlm.nih.gov/pubmed/36951961 http://dx.doi.org/10.1172/JCI164575

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