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Nature Communications|July 1, 2021
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndromeFederica Banfi, Alicia Rubio, Mattia Zaghi, et al.Journal of Medical Genetics|June 19, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acidChristoph Freyer, Henrik Stranneheim, Karin Naess, et al.Nature Communications|October 30, 2021
Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicitySimone Bido, Sharon Muggeo, Luca Massimino, et al.Nature Communications|August 2, 2024
Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoidsMaura Galimberti, Maria R Nucera, Vittoria D Bocchi, et al.American Journal of Human Genetics|November 3, 2015
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Yoshihito Kishita, Aleksandra Pajak, Nikhita Ajit Bolar, et al.American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.Pageof 2