Genetic Issues in the Diagnosis of Dystonias

por Petrucci, Simona, Valente, Enza Maria
Publicado 2013

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings

por Guadagnolo, Daniele, Piane, Maria, Torrisi, Maria Rosaria, Pizzuti, Antonio, Petrucci, Simona
Publicado 2021

Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors

por Faggiano, Antongiulio, Fazzalari, Beatrice, Mikovic, Nevena, Russo, Flaminia, Zamponi, Virginia, Mazzilli, Rossella, Guarnieri, Vito, Piane, Maria, Visco, Vincenzo, Petrucci, Simona
Publicado 2023

Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

por Germani, Aldo, Guadagnolo, Daniele, Salvati, Valentina, Micolonghi, Caterina, Mancini, Rita, Mastromoro, Gioia, Sadeghi, Soha, Petrucci, Simona, Pizzuti, Antonio, Piane, Maria
Publicado 2022

Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies

por Onofrj, Marco, Varanese, Sara, Bonanni, Laura, Taylor, John-Paul, Antonini, Angelo, Valente, Enza Maria, Petrucci, Simona, Stocchi, Fabrizio, Thomas, Astrid, Perfetti, Bernardo
Publicado 2013

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

por Guadagnolo, Daniele, Mastromoro, Gioia, Marchionni, Enrica, Germani, Aldo, Libi, Fabio, Sadeghi, Soha, Savio, Camilla, Petrucci, Simona, De Marchis, Laura, Piane, Maria, Pizzuti, Antonio
Publicado 2023

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report

por Cava, Francesco, Cristiano, Ernesto, Musumeci, Maria Beatrice, Savio, Camilla, Germani, Aldo, Monaco, Maria Lo, Petrucci, Simona, Torrisi, Maria Rosaria, Autore, Camillo, Rubattu, Speranza, Piane, Maria
Publicado 2021

Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form

por 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
Publicado 2016

A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature

por 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
Publicado 2022

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

por Micolonghi, Caterina, Fabiani, Marco, Pagannone, Erika, Savio, Camilla, Ricci, Marta, Caroselli, Silvia, Gambioli, Vittoria, Musumeci, Beatrice, Germani, Aldo, Tini, Giacomo, Autore, Camillo, Pizzuti, Antonio, Visco, Vincenzo, Rubattu, Speranza, Petrucci, Simona, Piane, Maria
Publicado 2023

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

por 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
Publicado 2022

Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?

por Cava, Francesco, Micolonghi, Caterina, Musumeci, Maria Beatrice, Petrucci, Simona, Savio, Camilla, Fabiani, Marco, Tini, Giacomo, Germani, Aldo, Libi, Fabio, Rossi, Carla, Visco, Vincenzo, Pizzuti, Antonio, Volpe, Massimo, Autore, Camillo, Rubattu, Speranza, Piane, Maria
Publicado 2023

The role of genetic testing in suspected fulminant myocarditis: A case report

por Mistrulli, Raffaella, Micolonghi, Caterina, Follesa, Federico, Fabiani, Marco, Pagannone, Erika, D'Amati, Giulia, Giordano, Carla, Caroselli, Silvia, Savio, Camilla, Germani, Aldo, Pizzuti, Antonio, Visco, Vincenzo, Petrucci, Simona, Rubattu, Speranza, Piane, Maria, Autore, Camillo
Publicado 2023

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

por 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
Publicado 2022

From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways

por Bianco, Lavinia, Raffa, Salvatore, Fornelli, Paolo, Mancini, Rita, Gabriele, Angela, Medici, Francesco, Battista, Claudia, Greco, Stefania, Croce, Giuseppe, Germani, Aldo, Petrucci, Simona, Anibaldi, Paolo, Bianco, Valerio, Ronchetti, Mario, Banchieri, Giorgio, Napoli, Christian, Piane, Maria
Publicado 2022

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

por Magrì, Damiano, Mastromarino, Vittoria, Gallo, Giovanna, Zachara, Elisabetta, Re, Federica, Agostoni, Piergiuseppe, Giordano, Dario, Rubattu, Speranza, Forte, Maurizio, Cotugno, Maria, Torrisi, Maria Rosaria, Petrucci, Simona, Germani, Aldo, Savio, Camilla, Maruotti, Antonello, Volpe, Massimo, Autore, Camillo, Piane, Maria, Musumeci, Beatrice
Publicado 2020

Whole‐exome sequencing for variant discovery in blepharospasm

por Tian, Jun, Vemula, Satya R., Xiao, Jianfeng, Valente, Enza Maria, Defazio, Giovanni, Petrucci, Simona, Gigante, Angelo Fabio, Rudzińska‐Bar, Monika, Wszolek, Zbigniew K., Kennelly, Kathleen D., Uitti, Ryan J., van Gerpen, Jay A., Hedera, Peter, Trimble, Elizabeth J., LeDoux, Mark S.
Publicado 2018

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers

por 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
Publicado 2020

Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism

por Borsche, Max, König, Inke R, Delcambre, Sylvie, Petrucci, Simona, Balck, Alexander, Brüggemann, Norbert, Zimprich, Alexander, Wasner, Kobi, Pereira, Sandro L, Avenali, Micol, Deuschle, Christian, Badanjak, Katja, Ghelfi, Jenny, Gasser, Thomas, Kasten, Meike, Rosenstiel, Philip, Lohmann, Katja, Brockmann, Kathrin, Valente, Enza Maria, Youle, Richard J, Grünewald, Anne, Klein, Christine
Publicado 2020

Global investigation and meta-analysis of the C9orf72 (G(4)C(2))(n) repeat in Parkinson disease

por Theuns, Jessie, Verstraeten, Aline, Sleegers, Kristel, Wauters, Eline, Gijselinck, Ilse, Smolders, Stefanie, Crosiers, David, Corsmit, Ellen, Elinck, Ellen, Sharma, Manu, Krüger, Rejko, Lesage, Suzanne, Brice, Alexis, Chung, Sun Ju, Kim, Mi-Jung, Kim, Young Jin, Ross, Owen A., Wszolek, Zbigniew K., Rogaeva, Ekaterina, Xi, Zhengrui, Lang, Anthony E., Klein, Christine, Weissbach, Anne, Mellick, George D., Silburn, Peter A., Hadjigeorgiou, Georgios M., Dardiotis, Efthimios, Hattori, Nobutaka, Ogaki, Kotaro, Tan, Eng-King, Zhao, Yi, Aasly, Jan, Valente, Enza Maria, Petrucci, Simona, Annesi, Grazia, Quattrone, Aldo, Ferrarese, Carlo, Brighina, Laura, Deutschländer, Angela, Puschmann, Andreas, Nilsson, Christer, Garraux, Gaëtan, LeDoux, Mark S., Pfeiffer, Ronald F., Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Maraganore, Demetrius M., Engelborghs, Sebastiaan, De Deyn, Peter Paul, Cras, Patrick, Cruts, Marc, Van Broeckhoven, Christine
Publicado 2014