• 4179 Citations
  • 39 h-Index
19962019
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Fingerprint Dive into the research topics where Maria Lucia Valentino is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 30 Similar Profiles
Leber's Hereditary Optic Atrophy Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Mutation Medicine & Life Sciences
Autosomal Dominant Optic Atrophy Medicine & Life Sciences
Mitochondrial Encephalomyopathies Medicine & Life Sciences
Optic Nerve Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences
Thymidine Phosphorylase Medicine & Life Sciences

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Research Output 1996 2019

  • 4179 Citations
  • 39 h-Index
  • 94 Article
  • 1 Comment/debate
  • 1 Letter

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899

Research output: Contribution to journalArticle

Open Access
Muscular Diseases
Mitochondrial DNA
Mutation
Mitochondrial Myopathies
Nuclear Proteins

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
1 Citation (Scopus)

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

Trifunov, S., Pyle, A., Valentino, M. L., Liguori, R., Yu-Wai-Man, P., Burté, F., Duff, J., Kleinle, S., Diebold, I., Rugolo, M., Horvath, R. & Carelli, V., Dec 1 2018, In : Scientific Reports. 8, 1, 11682.

Research output: Contribution to journalArticle

Mitochondrial DNA
Muscle Cells
Polymerase Chain Reaction
Laser Capture Microdissection
Muscles

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