Elisa Fassone

Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

V. Crugnola, Costanza Lamperti, Valeria Lucchini et al. · Archives of Neurology · 2010 · 139 citations

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi et al. · The American Journal of Human Genetics · 2009 · 137 citations · Full text

Autoimmune Disease, Mitochondrial Function, Disease Mechanism +8

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

Dario Ronchi, Alessio Di Fonzo, Weiqiang Lin et al. · The American Journal of Human Genetics · 2013 · 129 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mendelian Disorder +14

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Elisa Fassone, Andrew Duncan, Jan‐Willem Taanman et al. · Human Molecular Genetics · 2010 · 94 citations · Full text

Neurodegenerative Diseases, Mitophagy, Mitochondrial Function +15

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Yehani Wedatilake, Rojeen Niazi, Elisa Fassone et al. · Orphanet Journal of Rare Diseases · 2016 · 75 citations · Full text