EMANUELA FRUSTACI

PhD Student

PhD program:: XXXVIII
email: emanuela.frustaci@uniroma1.it
phone: 06499178234
building: PL38
room: 330

supervisor: Marco Tafani
advisor: Marco Tafani

Research: Humanin and Sirtuins as Novel potential Biomarkers of Myocytes dysfunction

WORK ADDRESS:
Istituto di Patologia Generale, Viale Regina Margherita 328
SUPERVISOR:
Marco Tafani
CAREER:
Master’s Degree in Medical Biotechnology
University of Rome “Tor Vergata”
Bachelor’s Degree in Biotechnology
PREVIOUS RESEARCH EXPERIENCE:
I have worked as a research assistant In Mendel Institute (RM) on the diagnosis of autosomal recessive diseases, with a strong focus on mutations in EVC and EVC2, genes involved in Ellis Van Creveld syndrome and skeletal ciliopathies.
SKILLS:
- NGS analysis with related panels
- quantitative analysis techniques (such as MLPA)
- PCR analysis
- Exome analysis

Research products

11573/1707594 - 2024 - Long-Term Clinical-Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy

Frustaci, Andrea; Verardo, Romina; Galea, Nicola; Alfarano, Maria; Magnocavallo, Michele; Marchitelli, Livia; Sansone, Luigi; Belli, Manuel; Cristina, Mario; Frustaci, Emanuela; Russo, Matteo Antonio; Chimenti, Cristina - 01a Articolo in rivista

paper: JOURNAL OF THE AMERICAN HEART ASSOCIATION. CARDIOVASCULAR AND CEREBROVASCULAR DISEASE (Oxford: Wiley-Blackwell) pp. - - issn: 2047-9980 - wos: (0) - scopus: (0)

11573/1682069 - 2023 - Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 479-484 - issn: 1018-4813 - wos: WOS:000907881800003 (1) - scopus: 2-s2.0-85145605532 (3)

11573/1682032 - 2021 - Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome

Frustaci, Andrea; De Luca, Alessandro; Galea, Nicola; Verardo, Romina; Guida, Valentina; Carrozzo, Rosalba; Chimenti, Cristina; Frustaci, Emanuela; Sansone, Luigi; Russo, Matteo Antonio - 01a Articolo in rivista

paper: ESC HEART FAILURE ([Oxford] : published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology, 2014-) pp. 2310-2315 - issn: 2055-5822 - wos: WOS:000638191000001 (3) - scopus: 2-s2.0-85104082564 (3)

11573/1682297 - 2021 - Pemphigus-associated cardiomyopathy: report of autoimmune myocarditis and review of literature

Frustaci, Andrea; Francone, Marco; Verardo, Romina; Scialla, Rossella; Bagnato, Giulia; Alfarano, Maria; Chimenti, Cristina; Frustaci, Emanuela; Sansone, Luigi; Russo, Matteo - 01g Articolo di rassegna (Review)

paper: ESC HEART FAILURE ([Oxford] : published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology, 2014-) pp. 3690-3695 - issn: 2055-5822 - wos: WOS:000688170600001 (1) - scopus: 2-s2.0-85113317400 (1)