Rosalba Carrozzo

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo et al. · The American Journal of Human Genetics · 1998 · 525 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +9

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

Cristiana Lo Nigro, Samuel S. Chong, Ann C. M. Smith et al. · Human Molecular Genetics · 1997 · 316 citations · Full text

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Andrea Ballabio, Barbara Bardoni, Rosalba Carrozzo et al. · Proceedings of the National Academy of Sciences · 1989 · 264 citations · Full text

Short Stature, Cytogenetics, Genetics +22

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation

Ilka Wittig, Rosalba Carrozzo, Filippo M. Santorelli et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2006 · 215 citations

Biochemistry, Mitochondrial Function, Natural Sciences +5

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald et al. · Brain · 2007 · 204 citations · Full text

Genetics, Pathology, Molecular Biology +20