If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Ivano Di Meo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 8 Similar Profiles
Sulfides Medicine & Life Sciences
Mitochondrial Diseases Medicine & Life Sciences
Genetic Therapy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Poisons Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Liver Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2008 2018

  • 608 Citations
  • 13 h-Index
  • 22 Article
  • 1 Review article
8 Citations (Scopus)

Classification and molecular pathogenesis of NBIA syndromes

Di Meo, I. & Tiranti, V., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 272-284 13 p.

Research output: Contribution to journalReview article

Iron
Exome
Proteins
Genetic Heterogeneity
Dystonia

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

Bruni, F., Di Meo, I., Bellacchio, E., Webb, B. D., McFarland, R., Chrzanowska-Lightowlers, Z. M. A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T., Bonnen, P. E., Enrico, B., Pronicka, E., Ghezzi, D. & 2 others, Taylor, R. W. & Diodato, D., Apr 2018, In : Human Mutation. 39, 4, p. 563-578 16 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Molecular Biology
Oxidative Phosphorylation
Valine-tRNA Ligase
Epilepsia Partialis Continua
3 Citations (Scopus)

Inborn errors of coenzyme A metabolism and neurodegeneration

Di Meo, I., Carecchio, M. & Tiranti, V., May 16 2018, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-7 7 p.

Research output: Contribution to journalArticle

Coenzyme A
Pantothenate Kinase-Associated Neurodegeneration
Iron
Pantothenic Acid
Mutation
5 Citations (Scopus)

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

Boyer, M., Sowa, M., Di Meo, I., Eftekharian, S., Steenari, M. R., Tiranti, V. & Abdenur, J. E., May 1 2018, In : Molecular Genetics and Metabolism. 124, 1, p. 57-63 7 p.

Research output: Contribution to journalArticle

Metronidazole
Acetylcysteine
Newborn Infant
Thiosulfates
Lactic Acid
3 Citations (Scopus)

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A. J., Viscomi, C., Casalone, C., Zeviani, M. & Galli, C., Jun 1 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 6, p. 2131-2142 12 p.

Research output: Contribution to journalArticle

Oxidoreductases
Swine
Phenotype
Leigh Disease
Skeletal Muscle