Salvatore Di Mauro

Hereditary Ferritinopathy: A Novel Mutation, Its Cellular Pathology, and Pathogenetic Insights

Michelangelo Mancuso, Guido Davidzon, Roger Kurlan et al. · Journal of Neuropathology & Experimental Neurology · 2005 · 146 citations · Full text

Novel Mutation, Mendelian Disorder, Ophthalmology +14

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

Disorders of lipid metabolism in muscle

Salvatore Di Mauro, C. Trevisan, Arthur Hays · Muscle & Nerve · 1980 · 130 citations

Mutations in the<i>SURF1</i>gene associated with Leigh syndrome and cytochrome<i>c</i>oxidase deficiency

Marie O. Péquignot, Runu Dey, Massimo Zeviani et al. · Human Mutation · 2001 · 104 citations

Muscle carnitine deficiency and fatal cardiomyopathy

Zwi H. Hart, Chung-Ho Chang, Salvatore Di Mauro et al. · Neurology · 1978 · 83 citations

Cardiomyopathy, Heart Failure, Cardiogenic Shock +8