Carrozzo, Rosalba

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

Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., et al. (2007) · Brain

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 208

Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 : phenotype and genotype correlations in 71 patients

Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 90

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., et al. (2008) · American Journal of Medical Genetics Part A

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 40

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Beecroft, S. J., Ayala, M., McGillivray, G., Nanda, V., Agolini, E., Novelli, A., Digilio, M. C., Dotta, A., Carrozzo, R., Clayton, J., et al. (2021) · Human Mutation

Genomics and Rare DiseasesCongenital heart defects research

Cited by 25

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

Pagliarini, D., Sung, A., Guerra, R., Steenberge, L., Alston, C., Murayama, K., Okazaki, Y., Shimura, M., Prokisch, H., Ghezzi, D., et al. (2023) · Nature Metabolism

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 23