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 · 262 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Mitochondrial Function +14

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 · 200 citations · Full text

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

Elisa Onesto, Claudia Colombrita, Valentina Gumina et al. · Acta Neuropathologica Communications · 2016 · 165 citations · Full text

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 · 119 citations · Full text

Metabolic Syndrome, Metabolic Disorder, Biochemistry +10

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

Gloria Brea‐Calvo, Tobias B. Haack, Daniela Karall et al. · The American Journal of Human Genetics · 2015 · 108 citations · Full text