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Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

BACKGROUND: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor–Rakeb syndrome (KRS), have been recently implicated in HSP. METHODS: Whole‐exome seque...

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Detalles Bibliográficos
Autores principales:	Estiar, Mehrdad A., Leveille, Etienne, Spiegelman, Dan, Dupre, Nicolas, Trempe, Jean-François, Rouleau, Guy A., Gan‐Or, Ziv
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057081/ https://www.ncbi.nlm.nih.gov/pubmed/31944623 http://dx.doi.org/10.1002/mgg3.1052

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