PETRUCCI, SIMONA

PETRUCCI, SIMONA  

DIPARTIMENTO DI MEDICINA CLINICA E MOLECOLARE  

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A dangerous food binge. a case report of hypokalemic periodic paralysis and review of current literature 2022 Colucci, Maria Carolina; Triolo, Marica Fabiana; Petrucci, Simona; Pugnaloni, Flaminia; Corsino, Massimiliano; Evangelisti, Melania; D'Asdia, Maria Cecilia; Di Nardo, Giovanni; Garibaldi, Matteo; Terrin, Gianluca; Parisi, Pasquale
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome 2022 Micolonghi, Caterina; Piane, Maria; Germani, Aldo; Sadeghi, Soha; Libi, Fabio; Savio, Camilla; Fabiani, Marco; Mancini, Rita; Ranieri, Danilo; Pizzuti, Antonio; Corleto, Vito Domenico; Parisi, Pasquale; Visco, Vincenzo; Di Nardo, Giovanni; Petrucci, Simona
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 2023 Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Maria Beatrice; Germani, Aldo; TINI MELATO, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza Donatella; Petrucci, Simona; Piane, Maria
Aberrant function of the C-terminal tail of HIST1H1E Aacelerates cellular senescence and causes premature aging 2019 Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio Francesca, Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, M. E. Suzanne.; Meuwissen, Marije; Kenis, Sandra; Van der Aa, Nathalie; Larson, Austin; Brown, Kathleen; Wasserstein Melissa, P.; Skotko Brian, G.; Begtrup, Amber; Person, Richard; Karayiorgou, Maria; Roos J., Louw; Van Gassen Koen, L.; Koopmans, Marije; Bijlsma Emilia, K.; Santen Gijs, W. E.; Barge-Schaapveld Daniela, Q. C. M.; Ruivenkamp Claudia, A. L.; Hoffer Mariette, J. V.; Lalani Seema, R.; Streff, Haley; Craigen William, J.; Graham Brett, H.; van den Elzen Annette, P. M.; Kamphuis Daan, J.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; Wojcik Monica, H.; Viberti, Clara; Di Gaetano, Cornelia; Bertini, Enrico; Petrucci, Simona; De Luca, Alessandro; Rota, Rossella; Ferretti, Elisabetta; Matullo, Giuseppe; Dallapiccola, Bruno; Sgura, Antonella; Walkiewicz, Magdalena; Kooy, R. Frank.; Tartaglia, Marco
Alpha-synuclein gene duplication. Marked intrafamilial variability in two novel pedigrees 2013 Elia, A. E.; Petrucci, S.; Fasano, A.; Guidi, M.; Valbonesi, S.; Bernardini, L.; Consoli, F.; Ferraris, A.; Albanese, A.; Valente, E. M.
BDNF and LTP-/LTD-like plasticity of the primary motor cortex in Gilles de la Tourette syndrome 2017 Marsili, Luca; Suppa, Antonio; DI STASIO, Flavio; Belvisi, Daniele; Upadhyay, Neeraj; Berardelli, Isabella; Pasquini, Massimo; Petrucci, Simona; Ginevrino, M.; Fabbrini, Giovanni; Cardona, Francesco Carmelo Giovanni; Defazio, Giovanni; Berardelli, Alfredo
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers 2020 Germani, Aldo; Petrucci, Simona; De Marchis, Laura; Libi, Fabio; Savio, Camilla; Amanti, Claudio; Bonifacino, Adriana; Campanella, Barbara; Capalbo, Carlo; Lombardi, Augusto; Maggi, Stefano; Mattei, Mauro; Osti, Mattia Falchetto; Pellegrini, Patrizia; Speranza, Annarita; Stanzani, Gianluca; Vitale, Valeria; Pizzuti, Antonio; Torrisi, Maria Rosaria; Piane, Maria
Brain connectivity changes in autosomal recessive Parkinson disease. A model for the sporadic form 2016 Makovac, Elena; Cercignani, Mara; Serra, Laura; Torso, Mario; Spanò, Barbara; Petrucci, Simona; Ricciardi, Lucia; Ginevrino, Monia; Caltagirone, Carlo; Bentivoglio, Anna Rita; Valente, Enza Maria; Bozzali, Marco
CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis 2022 Morena, Emanuele; Lucchini, Matteo; Romano, Carmela; Petrucci, Simona; Tartaglia, Matteo; Morosetti, Roberta; Conte, Antonella; Buscarinu, Maria Chiara; Romano, Silvia; Salvetti, Marco; Mirabella, Massimiliano; Ristori, Giovanni
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease 2024 Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors 2023 Faggiano, Antongiulio; Fazzalari, Beatrice; Mikovic, Nevena; Russo, Flaminia; Zamponi, Virginia; Mazzilli, Rossella; Guarnieri, Vito; Piane, Maria; Visco, Vincenzo; Petrucci, Simona
Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies 2013 Onofrj, M.; Varanese, S.; Bonanni, L.; Taylor, J. -P.; Antonini, A.; Valente, E. M.; Petrucci, S.; Stocchi, F.; Thomas, A.; Perfetti, B.
Complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature? 2022 Sciacchitano, Salvatore; De Francesco, Gian Paolo; Piane, Maria; Savio, Camilla; De Vitis, Claudia; Petrucci, Simona; Salvati, Valentina; Goldoni, Marina; Fabiani, Marco; Mesoraca, Alvaro; Micolonghi, Caterina; Torres, Barbara; Piccinetti, Annalisa; Pippi, Roberto; Mancini, Rita
Dairy Intake and Parkinson's Disease. A Mendelian Randomization Study 2022 Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Ashok Kumar Sreelatha, Ashwin; Schulte, Claudia; Grover, Sandeep; Mohamed, Océane; Portugal, Berta; May, Patrick; Bobbili, Dheeraj R; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B; Hernandez, Dena G; Edsall, Connor; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Rogaeva, Ekaterina; Lang, Anthony E; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugénie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Duga, Stefano; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Matsuo, Hirotaka; Kawamura, Yusuke; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Kolber, Pierre; van de Warrenburg, Bart P C; Bloem, Bastiaan R; Aasly, Jan; Toft, Mathias; Pihlstrøm, Lasse; Correia Guedes, Leonor; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Hellberg, Clara; Clarke, Carl E; Morrison, Karen E; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matt J; Krüger, Rejko; Gasser, Thomas; Sharma, Manu; Elbaz, Alexis
Diagnostic and therapeutic recommendations in adult dystonia: a joint document by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum Toxin 2022 Romano, Marcello; Bagnato, Sergio; Altavista, Maria Concetta; Avanzino, Laura; Belvisi, Daniele; Bologna, Matteo; Bono, Francesco; Carecchio, Miryam; Castagna, Anna; Ceravolo, Roberto; Conte, Antonella; Cosentino, Giuseppe; Eleopra, Roberto; Ercoli, Tommaso; Esposito, Marcello; Fabbrini, Giovanni; Ferrazzano, Gina; Lalli, Stefania; Mascia, Marcello Maria; Osio, Maurizio; Pellicciari, Roberta; Petrucci, Simona; Valente, Enza Maria; Valentino, Francesca; Zappia, Mario; Zibetti, Maurizio; Girlanda, Paolo; Tinazzi, Michele; Defazio, Giovanni; Berardelli, Alfredo
Diffusion-weighted magnetic resonance imaging in patients with partial status epilepticus 2009 Carlo Di Bonaventura, ; Francesca, Bonini; Jinane, Fattouch; Francesco, Mari; Petrucci, Simona; Marco, Carni; Emanuele, Tinelli; Pantano, Patrizia; Stefano, Bastianello; Maraviglia, Bruno; Mario, Manfredi; Prencipe, Massimiliano; Giallonardo, Anna Teresa
DYT2 screening in early-onset isolated dystonia 2017 Carecchio, Miryam; Reale, Chiara; Invernizzi, Federica; Monti, Valentina; Petrucci, Simona; Ginevrino, Monia; Morgante, Francesca; Zorzi, Giovanna; Zibordi, Federica; Bentivoglio, Anna Rita; Valente, Enza Maria; Nardocci, Nardo; Garavaglia, Barbara
Electrical status epilepticus "invisible" to surface EEG in late-onset Rasmussen encephalitis 2008 Fattouch, Jinane; Carlo Di, Bonaventura; G., Di Gennaro; P. P., Quarato; S., Petrucci; Manfredi, Mario; Prencipe, Massimiliano; Esposito, Vincenzo; Giallonardo, Anna Teresa
Embracing Monogenic Parkinson's Disease. The MJFF Global Genetic PD Cohort 2023 Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Brüggemann, Norbert; Borsche, Max; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J; Correia Guedes, Leonor; Avenali, Micol; Petrucci, Simona; Clark, Lorraine; Fedotova, Ekaterina Y; Abramycheva, Natalya Y; Alvarez, Victoria; Menéndez-González, Manuel; Jesús Maestre, Silvia; Gómez-Garre, Pilar; Mir, Pablo; Belin, Andrea Carmine; Ran, Caroline; Lin, Chin-Hsien; Kuo, Ming-Che; Crosiers, David; Wszolek, Zbigniew K; Ross, Owen A; Jankovic, Joseph; Nishioka, Kenya; Funayama, Manabu; Clarimon, Jordi; Williams-Gray, Caroline H; Camacho, Marta; Cornejo-Olivas, Mario; Torres-Ramirez, Luis; Wu, Yih-Ru; Lee-Chen, Guey-Jen; Morgadinho, Ana; Pulkes, Teeratorn; Termsarasab, Pichet; Berg, Daniela; Kuhlenbäumer, Gregor; Kühn, Andrea A; Borngräber, Friederike; de Michele, Giuseppe; De Rosa, Anna; Zimprich, Alexander; Puschmann, Andreas; Mellick, George D; Dorszewska, Jolanta; Carr, Jonathan; Ferese, Rosangela; Gambardella, Stefano; Chase, Bruce; Markopoulou, Katerina; Satake, Wataru; Toda, Tatsushi; Rossi, Malco; Merello, Marcelo; Lynch, Timothy; Olszewska, Diana A; Lim, Shen-Yang; Ahmad-Annuar, Azlina; Tan, Ai Huey; Al-Mubarak, Bashayer; Hanagasi, Hasmet; Koziorowski, Dariusz; Ertan, Sibel; Genç, Gençer; de Carvalho Aguiar, Patricia; Barkhuizen, Melinda; Pimentel, Marcia M G; Saunders-Pullman, Rachel; van de Warrenburg, Bart; Bressman, Susan; Toft, Mathias; Appel-Cresswell, Silke; Lang, Anthony E; Skorvanek, Matej; Boon, Agnita J W; Krüger, Rejko; Sammler, Esther M; Tumas, Vitor; Zhang, Bao-Rong; Garraux, Gaetan; Chung, Sun Ju; Kim, Yun Joong; Winkelmann, Juliane; Sue, Carolyn M; Tan, Eng-King; Damásio, Joana; Klivényi, Péter; Kostic, Vladimir S; Arkadir, David; Martikainen, Mika; Borges, Vanderci; Hertz, Jens Michael; Brighina, Laura; Spitz, Mariana; Suchowersky, Oksana; Riess, Olaf; Das, Parimal; Mollenhauer, Brit; Gatto, Emilia M; Petersen, Maria Skaalum; Hattori, Nobutaka; Wu, Ruey-Meei; Illarioshkin, Sergey N; Valente, Enza Maria; Aasly, Jan O; Aasly, Anna; Alcalay, Roy N; Thaler, Avner; Farrer, Matthew J; Brockmann, Kathrin; Corvol, Jean-Christophe; Klein, Christine
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes 2023 Hofland, Johannes; Falconi, Massimo; Christ, Emanuel; Castaño, Justo P; Faggiano, Antongiulio; Lamarca, Angela; Perren, Aurel; Petrucci, Simona; Prasad, Vikas; Ruszniewski, Philippe; Thirlwell, Christina; Vullierme, Marie-Pierre; Welin, Staffan; Bartsch, Detlef K