Santorelli, Filippo Maria

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

The Mitochondrial Ornithine Transporter

Fiermonte, G., Dolce, V., David, L., Santorelli, F. M., Dionisi-Vici, C., Palmieri, F., & Walker, J. E. (2003) · Journal of Biological Chemistry

Amino Acid Enzymes and MetabolismMetabolism and Genetic Disorders

Cited by 140

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

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., et al. (2018) · Frontiers in Neurology

Hereditary Neurological DisordersGenomics and Rare Diseases

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