Camilla Maffezzini

Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

Simone Bido, Sharon Muggeo, Luca Massimino et al. · Nature Communications · 2021 · 184 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido et al. · The American Journal of Human Genetics · 2016 · 120 citations · Full text

Life Sciences, Cell Biology, Neuroscience +12

Rescue of primary ubiquinone deficiency due to a novel <i>COQ7</i> defect using 2,4–dihydroxybensoic acid

Christoph Freyer, Henrik Stranneheim, K Naess et al. · Journal of Medical Genetics · 2015 · 112 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +17

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Yoshihito Kishita, Aleksandra Pajak, Nikhita Bolar et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

Ana Bratić, Paula Clemente, Javier Calvo‐Garrido et al. · PLoS Genetics · 2016 · 61 citations · Full text

Life Sciences, Biology, Molecular Biology +17