• 988 Citations
  • 17 h-Index
20092019
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Fingerprint Dive into the research topics where Leonardo Caporali is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 18 Similar Profiles
Mitochondrial DNA Medicine & Life Sciences
Mutation Medicine & Life Sciences
Autosomal Dominant Optic Atrophy Medicine & Life Sciences
Leber's Hereditary Optic Atrophy Medicine & Life Sciences
Optic Nerve Diseases Medicine & Life Sciences
Optic Atrophy Medicine & Life Sciences
Penetrance Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2009 2019

  • 988 Citations
  • 17 h-Index
  • 42 Article
  • 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

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

Bisulli, F., Licchetta, L., Baldassari, S., Muccioli, L., Marconi, C., Cantalupo, G., Myers, C., Menghi, V., Minardi, R., Caporali, L., Marini, C., Guerrini, R., Mefford, H. C., Tinuper, P. & Pippucci, T., Apr 2019, In : Epileptic Disorders. 21, 2, p. 185-191 7 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Epilepsy
Mutation
Febrile Seizures
Nuclear Family

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
3 Citations (Scopus)

Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III

Tropeano, C. V., Fiori, J., Carelli, V., Caporali, L., Daldal, F., Ghelli, A. M. & Rugolo, M., Mar 1 2018, In : Biochimica et Biophysica Acta - Bioenergetics. 1859, 3, p. 182-190 9 p.

Research output: Contribution to journalArticle

Phosphorylation
Electron Transport Complex III
Oxidation-Reduction
Homeostasis
Tyrosine
2 Citations (Scopus)

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

Del Dotto, V., Fogazza, M., Musiani, F., Maresca, A., Aleo, S. J., Caporali, L., La Morgia, C., Nolli, C., Lodi, T., Goffrini, P., Chan, D., Carelli, V., Rugolo, M., Baruffini, E. & Zanna, C., Oct 1 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 10, p. 3496-3514 19 p.

Research output: Contribution to journalArticle

Autosomal Dominant Optic Atrophy
Virulence
Yeasts
Mutation
Mitochondrial DNA