Sabrina Dusi

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika Hartig, Arcangela Iuso, Tobias B. Haack et al. · The American Journal of Human Genetics · 2011 · 266 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack et al. · The American Journal of Human Genetics · 2013 · 204 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

Elisa Onesto, Claudia Colombrita, Valentina Gumina et al. · Acta Neuropathologica Communications · 2016 · 170 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +14

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Valerio Leoni, Laura Strittmatter, Giovanna Zorzi et al. · Molecular Genetics and Metabolism · 2011 · 120 citations · Full text

Life Sciences, Biochemistry, Genetics +11

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Dario Brunetti, Sabrina Dusi, Michela Morbin et al. · Human Molecular Genetics · 2012 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17