11573/1766969 - 2026 -
Genome-wide association study of copy number variations in Parkinson's disease Landoulsi, Zied; Sreelatha, Ashwin Ashok Kumar; Kuznetsov, Nicole; Schulte, Claudia; Bobbili, Dheeraj Reddy; Montanucci, Ludovica; Leu, Costin; Niestroj, Lisa-Marie; Hassanin, Emadeldin; Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Portugal, Berta; Edsall, Connor; Krüger, Jens; Hernandez, Dena G; Blauwendraat, Cornelis; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Tan, Manuela; Rogaeva, Ekaterina; Lang, Anthony; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Burbulla, Lena F; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Pavelka, Lukas; Kolber, Pierre; Van De Warrenburg, Bart Pc; Bloem, Bastiaan R; Singleton, Andrew B; Vitale, Dan; Toft, Mathias; Pihlstrom, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Clarke, Carl E; Morrison, Karen E; Krainc, Dimitri; Farrer, Matt J; Lal, Dennis; Elbaz, Alexis; Gasser, Thomas; Krüger, Rejko; Sharma, Manu; May, Patrick - 01a Articolo in rivista
paper: NPJ PARKINSON'S DISEASE ([New York NY] : Nature Publishing Group; Parkinson's Disease Foundation , [2015]-) pp. - - issn: 2373-8057 - wos: (0) - scopus: (0)
11573/1743363 - 2025 -
The Italian public health response during the pandemic emergency: from qualitative data to the "performance index" of care provided by Spoleto Hospital Caroselli, Silvia; Roselli, Martina; Germani, Aldo; Fabiani, Marco; Micolonghi, Caterina; Visco, Vincenzo; Raffa, Salvatore; Mancini, Rita; Petrucci, Simona; Cardone, Alexander; Rossi, Orietta; Banchieri, Giorgio; Napoli, Christian; Piane, Maria - 01a Articolo in rivista
paper: FRONTIERS IN PUBLIC HEALTH (Lausanne : Frontiers Editorial Office, 2013-) pp. - - issn: 2296-2565 - wos: WOS:001519317400001 (0) - scopus: 2-s2.0-105009462252 (0)
11573/1730997 - 2025 -
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy Bottillo, Irene; Ciccone, Maria Pia; Magliozzi, Monia; Pilichou, Kalliopi; Girotto, Giorgia; Girolami, Francesca; Cecconi, Massimiliano; D'argenio, Valeria; Novelli, Valeria; Coiana, Alessandra; Formicola, Daniela; Micaglio, Emanuele; Tortora, Giada; Gualandi, Francesca; Petrucci, Simona; Castori, Marco; Resta, Nicoletta; Vestri, Anna Rita; Iascone, Maria; Grammatico, Paola - 01f Lettera, Nota
paper: JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY ([London]: Academic Press) pp. 46-50 - issn: 1095-8584 - wos: WOS:001391820400001 (0) - scopus: 2-s2.0-85211981722 (0)
11573/1721154 - 2025 -
Re-analysis of next-generation sequencing data in patients with hypertrophic cardiomyopathy: contribution of spliceogenic MYBPC3 variants in an italian cohort 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 - 01a Articolo in rivista
paper: ANNALS OF LABORATORY MEDICINE (Korean Association of Medical Journal Editors.) pp. 96-100 - issn: 2234-3806 - wos: (0) - scopus: 2-s2.0-85211349410 (4)
11573/1761052 - 2025 -
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations Caroselli, Silvia; Corona, Giulia; Fabiani, Marco; Manzoni, Martina; Micolonghi, Caterina; Savio, Camilla; Germani, Aldo; Bragliola, Stefania; Maselli, Valeria; Rubattu, Speranza; Musumeci, Beatrice; Tini, Giacomo; Visco, Vincenzo; Petrucci, Simona; Novelli, Valeria; Piane, Maria - 01a Articolo in rivista
paper: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. - - issn: 1059-7794 - wos: WOS:001626778500001 (2) - scopus: 2-s2.0-105023434264 (1)
11573/1762900 - 2025 -
Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review Mastrangelo, Mario; Petrucci, Simona; Lentini, Giuliana; Fabiani, Marco; Piane, Maria; Pisani, Francesco - 01g Articolo di rassegna (Review)
paper: AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS (Hoboken, N.J. : Wiley-Liss, 2003-) pp. 76-87 - issn: 1552-485X - wos: WOS:001507604400001 (2) - scopus: 2-s2.0-105007906083 (2)
11573/1740702 - 2025 -
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients Fabiani, Marco; Micolonghi, Caterina; Caroselli, Silvia; Savio, Camilla; Petrucci, Simona; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; De Fazio, Ludovica; Germani, Aldo; Visco, Vincenzo; Pizzuti, Antonio; Veneziano, Liana; Marchionni, Enrica; Mango, Ruggiero; Pezzoli, Laura; Bottillo, Irene; Lucca, Camilla; Scatigno, Agnese; Goisis, Lucrezia; Cappuccini, Francesca; Ciccone, Maria Pia; Ballerini, Adelaide; Gozzini, Alessia; Onofri, Valerio; Cristalli, Carlotta Pia; Latini, Andrea; D'angelantonio, Daniela; Gualandi, Francesca; Tortora, Giada; Magliozzi, Monia; Novelli, Antonio; Rossi, Cesare; Grammatico, Paola; Sangiuolo, Federica; Girolami, Francesca; Iascone, Maria; Olivotto, Iacopo; Autore, Camillo; Rubattu, Speranza; Piane, Maria - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF HUMAN GENETICS (First or current publisher Basel ; New York : Karger, [1992]-
Intervening publisher [Houndmills, Basingstoke, Hampshire, UK] : Stockton Press
Intervening publisher [London?] : MacMillan Publishers Ltd.
Current or last publisher [London] : Nature Publishing Group) pp. - - issn: 1476-5438 - wos: WOS:001499553700001 (5) - scopus: 2-s2.0-105006931839 (3)
11573/1758487 - 2025 -
Challenges in hypothalamic hamartoma: focus on practical management Ventresca, Silvia; Ricciardi, Luca; Petrucci, Simona; Piane, Maria; Bernabucci, Mariangela; Costa, Mattia; Bellone, Giulia; Di Donato, Virginia; De Felice Ciccoli, Cristiana; Mennini, Maurizio; Di Nardo, Giovanni; Orsini, Alessandro; Parisi, Pasquale; Ferretti, Alessandro - 01g Articolo di rassegna (Review)
paper: MINERVA PEDIATRICS (Torino: Minerva medica) pp. - - issn: 2724-5780 - wos: (0) - scopus: (0)