• 2590 Citations
  • 20 h-Index
1993 …2019
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Fingerprint Dive into the research topics where Leonardo D'Agruma is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 13 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Central Nervous System Cavernous Hemangioma Medicine & Life Sciences
Primary Hyperparathyroidism Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Calcium-Sensing Receptors Medicine & Life Sciences
Alleles Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 1993 2019

  • 2590 Citations
  • 20 h-Index
  • 52 Article

A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

De Luise, M., Guarnieri, V., Ceccarelli, C., D'Agruma, L., Porcelli, A. M. & Gasparre, G., Jan 1 2019, In : Oxidative Medicine and Cellular Longevity. 2019, 1 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Tumors
Defects
Mutation
Carbonic Anhydrases

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Bidollari, E., Rotundo, G., Altieri, F., Amicucci, M., Wiquel, D., Ferrari, D., Goldoni, M., Bernardini, L., Consoli, F., De Luca, A., Fanelli, S., Lamorte, G., D'Agruma, L., Vescovi, A. L., Squitieri, F. & Rosati, J., Oct 1 2019, In : Stem Cell Research. 40, 101551.

Research output: Contribution to journalArticle

Open Access
Induced Pluripotent Stem Cells
Atrophy
Cell Line
Dyskinesias
North America
Molecular Pathology
Workflow
Blood Vessels
Databases
Genetic Association Studies
1 Citation (Scopus)

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: Insights into molecular properties of selected exostosin variants

Fusco, C., Nardella, G., Fischetto, R., Copetti, M., Petracca, A., Annunziata, F., Augello, B., D'Asdia, M. C., Petrucci, S., Mattina, T., Rella, A., Cassina, M., Bengala, M., Biagini, T., Causio, F. A., Caldarini, C., Brancati, F., De Luca, A., Guarnieri, V., Micale, L. & 2 others, D'Agruma, L. & Castori, M., Jul 1 2019, In : Human Molecular Genetics. 28, 13, p. 2133-2142 10 p.

Research output: Contribution to journalArticle

Multiple Hereditary Exostoses
Genetic Association Studies
Osteochondroma
Cell Cycle Proteins
Heparitin Sulfate
Central Nervous System Cavernous Hemangioma
Penetrance
Autophagy
Computer Simulation
Genes