Research Output per year
Research Output 2016 2018
- 53 Citations
- 4 h-Index
- 6 Article
2018
Cerebral mitochondrial microangiopathy leads to leukoencephalopathy in mitochondrial neurogastrointestinal encephalopathy
Gramegna, L. L., Pisano, A., Testa, C., Manners, D. N., D'Angelo, R., Boschetti, E., Giancola, F., Pironi, L., Caporali, L., Capristo, M., Valentino, M. L., Plazzi, G., Casali, C., Dotti, M. T., Cenacchi, G., Hirano, M., Giordano, C., Parchi, P., Rinaldi, R., De Giorgio, R. & 3 others, , Mar 1 2018, In : American Journal of Neuroradiology. 39, 3, p. 427-434 8 p.Research output: Contribution to journal › Article
Cerebral Small Vessel Diseases
Leukoencephalopathies
Thymidine Phosphorylase
Brain
DNA Replication
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F. & 5 others, , 2018, In : PLoS Genetics. 14, 2, e1007210.Research output: Contribution to journal › Article
2017
12
Citations
(Scopus)
Incomplete penetrance in mitochondrial optic neuropathies
Caporali, L., Maresca, A., Capristo, M., Del Dotto, V., Tagliavini, F., Valentino, M. L., La Morgia, C. & Carelli, V., 2017, In : Mitochondrion. 36, p. 130-7Research output: Contribution to journal › Article
Leber's Hereditary Optic Atrophy
Optic Nerve Diseases
Penetrance
Mitochondrial DNA
Autosomal Dominant Optic Atrophy
6
Citations
(Scopus)
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy
D'Angelo, R., Rinaldi, R., Pironi, L., Dotti, M. T., Pinna, D. A., Boschetti, E., Capristo, M., Mohamed, S., Contin, M., Caporali, L., Carelli, V. & De Giorgio, R., 2017, In : Mitochondrion. 34, p. 101-102Research output: Contribution to journal › Article
2016
4
Citations
(Scopus)
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy
D’Angelo, R., Rinaldi, R., Carelli, V., Boschetti, E., Caporali, L., Capristo, M., Casali, C., Cenacchi, G., Gramegna, L. L., Lodi, R., Pinna, A. D., Pironi, L., Stanzani, M., Tonon, C., D’Alessandro, R. & de Giorgio, R., 2016, In : Neurological Sciences. 37, p. 1149-1151 3 p.Research output: Contribution to journal › Article
Thymidine Phosphorylase
Italy
Cachexia
Hematopoietic Stem Cell Transplantation
Neurologic Manifestations
31
Citations
(Scopus)
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
De Giorgio, R., Pironi, L., Rinaldi, R., Boschetti, E., Caporali, L., Capristo, M., Casali, C., Cenacchi, G., Contin, M., D'Angelo, R., D'Errico, A., Gramegna, L. L., Lodi, R., Maresca, A., Mohamed, S., Morelli, M. C., Papa, V., Tonon, C., Tugnoli, V., Carelli, V. & 2 others, , Sep 1 2016, In : Annals of Neurology. 80, 3, p. 448-455 8 p.Research output: Contribution to journal › Article
Mitochondrial Encephalomyopathies
Thymidine Phosphorylase
Liver Transplantation
Poisons
Nucleosides