• 741 Citations
  • 18 h-Index
19952019
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Fingerprint Dive into the research topics where Fabio Corsolini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Fanconi Anemia Medicine & Life Sciences
Cerebroside-Sulfatase Medicine & Life Sciences
Metachromatic Leukodystrophy Medicine & Life Sciences
Genes Medicine & Life Sciences
Mucopolysaccharidosis II Medicine & Life Sciences
Iduronate Sulfatase Medicine & Life Sciences
Alleles Medicine & Life Sciences

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Research Output 1995 2019

  • 741 Citations
  • 18 h-Index
  • 55 Article

FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene

Miano, M., Cappelli, E., Pezzulla, A., Venè, R., Grossi, A., Terranova, P., Palmisani, E., Maggiore, R., Guardo, D., Lanza, T., Calvillo, M., Micalizzi, C., Pierri, F., Vernarecci, C., Beccaria, A., Corsolini, F., Lanciotti, M., Russo, G., Ceccherini, I., Dufour, C. & 1 others, Fioredda, F., 2019, In : British Journal of Haematology. 187, 4, p. 502-508 7 p.

Research output: Contribution to journalArticle

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., Mar 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Fanconi Anemia Complementation Group Proteins
Phenotype
Mutation
Adenosine Monophosphate
4 Citations (Scopus)

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., Feb 28 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Fanconi Anemia Complementation Group Proteins
Phenotype
Mutation
Adenosine Monophosphate

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs

Lualdi, S., Del Zotto, G., Zegarra-Moran, O., Pedemonte, N., Corsolini, F., Bruschi, M., Tomati, V., Amico, G., Candiano, G., Dardis, A., Cooper, D. N. & Filocamo, M., Jul 2017, In : Human Mutation. 38, 7, p. 849-862 14 p.

Research output: Contribution to journalArticle

Iduronate Sulfatase
Messenger RNA
Proteins
Uridine
Mucopolysaccharidosis II