Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis

Niemann-Pick type C1 (NPC1) disease is a lysosomal storage disorder caused by defective intracellular trafficking of exogenous cholesterol. Purkinje cell (PC) degeneration is the main sign of cerebellar dysfunction in both NPC1 patients and animal models. It has been recently shown that a significan...

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Detalles Bibliográficos
Publicado en:Acta Neuropathol Commun
Main Authors: Caporali, Paola, Bruno, Francesco, Palladino, Giampiero, Dragotto, Jessica, Petrosini, Laura, Mangia, Franco, Erickson, Robert P., Canterini, Sonia, Fiorenza, Maria Teresa
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5009663/
https://ncbi.nlm.nih.gov/pubmed/27586038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-016-0370-z
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