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Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a severe encephalopathy characterized by intractable epilepsy, infantile spasms, and cognitive disabilities. The detrimental CNS manifestations and lack of therapeutic interventions represent unmet needs, necessitating identification of CDD-dependent phenotypes for...

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Detalles Bibliográficos
Autores principales:	Di Nardo, Alessia, Rühmkorf, Alina, Award, Patricia, Brennecke, Ashton, Fagiolini, Michela, Sahin, Mustafa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960319/ https://www.ncbi.nlm.nih.gov/pubmed/34624412 http://dx.doi.org/10.1016/j.neures.2021.10.001

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