• 1925 Citations
  • 23 h-Index
20072019
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Fingerprint Dive into the research topics where Diego Martinelli is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 31 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Inborn Urea Cycle Disorder Medicine & Life Sciences
Mitochondrial Diseases Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Vitamin B 12 Medicine & Life Sciences
Lactic Acidosis Medicine & Life Sciences
Hyperammonemia Medicine & Life Sciences

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Research Output 2007 2019

  • 1925 Citations
  • 23 h-Index
  • 85 Article
  • 3 Review article

Analysis of LPI-causing mutations on y+LAT1 function and localization

Rotoli, B. M., Barilli, A., Ingoglia, F., Visigalli, R., Bianchi, M. G., Ferrari, F., Martinelli, D., Dionisi-Vici, C. & Dall'Asta, V., Mar 4 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 63

Research output: Contribution to journalArticle

Mutation
Arginine
CHO Cells
Monocytes
Proteins

Chronic Liver Involvement in Urea Cycle Disorders

Ranucci, G., Rigoldi, M., Cotugno, G., Bernabei, S., Liguori, A., Gasperini, S., Goffredo, B., Martinelli, D., Monti, L., Francalanci, P., Candusso, M., Parini, R. & Dionisi-Vici, C., Jul 1 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Liver
Liver Diseases
Chronic Disease
alpha-Fetoproteins
Carnitine
Newborn Infant
Mutation
Siblings
2-Methylbutyryl-CoA Dehydrogenase Deficiency

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 othersLamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 othersLamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles