Research Output per year
Fingerprint Dive into the research topics where Anna Ardissone is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 43 Similar Profiles
Mutation
Medicine & Life Sciences
Mitochondrial Diseases
Medicine & Life Sciences
Leukoencephalopathies
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Peripheral Nervous System Diseases
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Duchenne Muscular Dystrophy
Medicine & Life Sciences
Muscular Diseases
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 2009 2019
- 505 Citations
- 14 h-Index
- 52 Article
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 others, , May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.Research output: Contribution to journal › Article
Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
3
Citations
(Scopus)
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 others, , May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.Research output: Contribution to journal › Article
Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
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, , Apr 2018, In : Human Mutation. 39, 4, p. 563-578 16 p.Research output: Contribution to journal › Article
Mitochondrial Diseases
Molecular Biology
Oxidative Phosphorylation
Valine-tRNA Ligase
Epilepsia Partialis Continua
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D. & 37 others, , Jul 19 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 120Research output: Contribution to journal › Article
Riboflavin Deficiency
Acyl-CoA Dehydrogenase
Molecular Biology
Riboflavin
Cardiomyopathies
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
Catania, A., Ardissone, A., Verrigni, D., Legati, A., Reyes, A., Lamantea, E., Diodato, D., Tonduti, D., Imperatore, V., Pinto, A. M., Moroni, I., Bertini, E., Robinson, A., Carrozzo, R., Zeviani, M. & Ghezzi, D., May 2018, In : Journal of Human Genetics. 63, 5, p. 563-568 6 p.Research output: Contribution to journal › Article
Leigh Disease
Exome
Messenger RNA
RNA Splice Sites
Mutation