Pubblicazioni

Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort

2024 - ANNALS OF LABORATORY MEDICINE
Caroselli, Silvia; Fabiani, Marco; Micolonghi, Caterina; Savio, Camilla; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; Germani, Aldo; Libi, Fabio; Visco, Vincenzo; Pizzuti, Antonio; Autore, Camillo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria

Alternative splicing: a potential therapeutic target in hematological malignancies

2024 - HEMATOLOGY REPORTS
Temaj, Gazmend; Chichiarelli, Silvia; Saha, Sarmistha; Telkoparan-Akillilar, Pelin; Nuhii, Nexhibe; Hadziselimovic, Rifat; Saso, Luciano

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family

2019 - BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Maranghi, M.; Truglio, G.; Gallo, A.; Grieco, E.; Verrienti, A.; Montali, A.; Gallo, P.; Alesini, F.; Arca, M.; Lucarelli, M.

Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders

2017 - HUMAN GENETICS
Pagliarini, Vittoria; La Rosa, Piergiorgio; Sette, Claudio

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