• 53 Citations
  • 4 h-Index
20162018
If you made any changes in Pure these will be visible here soon.

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, Lodi, R., Carelli, V. & Tonon, C., Mar 1 2018, In : American Journal of Neuroradiology. 39, 3, p. 427-434 8 p.

Research output: Contribution to journalArticle

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, Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A. & Carelli, V., 2018, In : PLoS Genetics. 14, 2, e1007210.

Research output: Contribution to journalArticle

2017
12 Citations (Scopus)
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. 101-102

Research output: Contribution to journalArticle

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 journalArticle

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, D'Alessandro, R. & Pinna, A. D., Sep 1 2016, In : Annals of Neurology. 80, 3, p. 448-455 8 p.

Research output: Contribution to journalArticle

Mitochondrial Encephalomyopathies
Thymidine Phosphorylase
Liver Transplantation
Poisons
Nucleosides