• 1902 Citations
  • 26 h-Index
19942019
If you made any changes in Pure these will be visible here soon.

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

  • 23 Similar Profiles
Mutation Medicine & Life Sciences
Muscles Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Proteins Medicine & Life Sciences
Genes Medicine & Life Sciences
Induced Pluripotent Stem Cells Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Emery-Dreifuss Muscular Dystrophy Medicine & Life Sciences

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

Research Output 1994 2019

  • 1902 Citations
  • 26 h-Index
  • 96 Article
  • 1 Chapter

Assessing drug effect from distributional data: A population approach with application to Duchenne Muscular Dystrophy treatment

Lavezzi, S. M., Rocchetti, M., Bettica, P., Petrini, S. & De Nicolao, G., Sep 2019, In : Computer Methods and Programs in Biomedicine. 178, p. 329-342 14 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Muscle
Fibers
Pharmaceutical Preparations
Population

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Mitogen-Activated Protein Kinases
Mutation
Noonan Syndrome
Mutant Proteins
2 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, Lamperti, 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 others, Lamperti, 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