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Genetic Paradoxes in an Italian Family with PARK2 Multiexon Duplication.
Published in:
Movement Disorders Clinical Practice, 2017, v. 4, n. 6, p. 889, doi. 10.1002/mdc3.12531
By:
- Petrucci, Simona;
- Ferrazzano, Gina;
- Ginevrino, Monia;
- Tolve, Manuela;
- Berardelli, Isabella;
- Berardelli, Alfredo;
- Fabbrini, Giovanni;
- Valente, Enza Maria
Publication type:
Article
Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier.
Published in:
Movement Disorders Clinical Practice, 2017, v. 4, n. 3, p. 444, doi. 10.1002/mdc3.12406
By:
- Picillo, Marina;
- Petrucci, Simona;
- Valente, Enza Maria;
- Pappatà, Sabina;
- Squame, Fiorenzo;
- Ginevrino, Monia;
- Pace, Leonardo;
- Barone, Paolo;
- Pellecchia, Maria Teresa
Publication type:
Article
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease.
Published in:
Neurological Sciences, 2013, v. 34, n. 3, p. 383, doi. 10.1007/s10072-012-1014-0
By:
- Stefani, Alessandro;
- Marzetti, Francesco;
- Pierantozzi, Mariangela;
- Petrucci, Simona;
- Olivola, Enrica;
- Galati, Salvatore;
- Bassi, Mario;
- Imbriani, Paola;
- Valente, Enza;
- Pastore, Francesco
Publication type:
Article
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
Published in:
2020
By:
- 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
Publication type:
journal article
Diffusion-weighted magnetic resonance imaging in patients with partial status epilepticus.
Published in:
Epilepsia (Series 4), 2009, v. 50, p. 45, doi. 10.1111/j.1528-1167.2008.01970.x
By:
- Di Bonaventura, Carlo;
- Bonini, Francesca;
- Fattouch, Jinane;
- Mari, Francesco;
- Petrucci, Simona;
- Carnì, Marco;
- Tinelli, Emanuele;
- Pantano, Patrizia;
- Bastianello, Stefano;
- Maraviglia, Bruno;
- Manfredi, Mario;
- Prencipe, Massimiliano;
- Giallonardo, Anna T.
Publication type:
Article
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 3003, doi. 10.3390/jcm9093003
By:
- 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
Publication type:
Article
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1636, doi. 10.3390/jcm9061636
By:
- 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
Publication type:
Article
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1362013
By:
- Romano, Carmela;
- Morena, Emanuele;
- Petrucci, Simona;
- Diamant, Selene;
- Marconi, Martina;
- Travaglini, Lorena;
- Zanni, Ginevra;
- Piane, Maria;
- Alvetti, Marco;
- Romano, Silvia;
- Ristori, Giovanni
Publication type:
Article
Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.648588
By:
- Guadagnolo, Daniele;
- Piane, Maria;
- Torrisi, Maria Rosaria;
- Pizzuti, Antonio;
- Petrucci, Simona
Publication type:
Article
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways.
Published in:
International Journal of Environmental Research & Public Health, 2022, v. 19, n. 13, p. 7806, doi. 10.3390/ijerph19137806
By:
- 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
Publication type:
Article
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 15, p. 4399, doi. 10.3390/jcm13154399
By:
- Mazzilli, Rossella;
- Petrucci, Simona;
- Zamponi, Virginia;
- Golisano, Bianca;
- Pecora, Giulia;
- Mancini, Camilla;
- Salerno, Gerardo;
- Alesi, Laura;
- De Santis, Ilaria;
- Libi, Fabio;
- Rossi, Carla;
- Borro, Marina;
- Raffa, Salvatore;
- Visco, Vincenzo;
- Defeudis, Giuseppe;
- Piane, Maria;
- Faggiano, Antongiulio
Publication type:
Article
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes.
Published in:
Journal of Neuroendocrinology, 2023, v. 35, n. 8, p. 1, doi. 10.1111/jne.13318
By:
- 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.;
- Begum, N.;
- Capdevila, J.;
- Couvelard, A.;
- De Mestier, L.;
- Denecke, T.;
- Fazio, N.
Publication type:
Article
Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies.
Published in:
Journal of Neurology, 2013, v. 260, n. 7, p. 1731, doi. 10.1007/s00415-013-6853-y
By:
- Onofrj, Marco;
- Varanese, Sara;
- Bonanni, Laura;
- Taylor, John-Paul;
- Antonini, Angelo;
- Valente, Enza;
- Petrucci, Simona;
- Stocchi, Fabrizio;
- Thomas, Astrid;
- Perfetti, Bernardo
Publication type:
Article
Whole‐exome sequencing for variant discovery in blepharospasm.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 601, doi. 10.1002/mgg3.411
By:
- 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.
Publication type:
Article
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 13, p. 2133, doi. 10.1093/hmg/ddz046
By:
- Fusco, Carmela;
- Nardella, Grazia;
- Fischetto, Rita;
- Copetti, Massimiliano;
- Petracca, Antonio;
- Annunziata, Francesca;
- Augello, Bartolomeo;
- D'Asdia, Maria Cecilia;
- Petrucci, Simona;
- Mattina, Teresa;
- Rella, Annalisa;
- Cassina, Matteo;
- Bengala, Mario;
- Biagini, Tommaso;
- Causio, Francesco Andrea;
- Caldarini, Camilla;
- Brancati, Francesco;
- Luca, Alessandro De;
- Guarnieri, Vito;
- Micale, Lucia
Publication type:
Article
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form.
Published in:
PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0163980
By:
- 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
Publication type:
Article
GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort.
Published in:
Movement Disorders, 2020, v. 35, n. 11, p. 2106, doi. 10.1002/mds.28195
By:
- Petrucci, Simona;
- Ginevrino, Monia;
- Trezzi, Ilaria;
- Monfrini, Edoardo;
- Ricciardi, Lucia;
- Albanese, Alberto;
- Avenali, Micol;
- Barone, Paolo;
- Bentivoglio, Anna Rita;
- Bonifati, Vincenzo;
- Bove, Francesco;
- Bonanni, Laura;
- Brusa, Livia;
- Cereda, Cristina;
- Cossu, Giovanni;
- Criscuolo, Chiara;
- Dati, Giovanna;
- De Rosa, Anna;
- Eleopra, Roberto;
- Fabbrini, Giovanni
Publication type:
Article
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.
Published in:
Biomedicines, 2023, v. 11, n. 7, p. 2062, doi. 10.3390/biomedicines11072062
By:
- Guadagnolo, Daniele;
- Mastromoro, Gioia;
- Marchionni, Enrica;
- Germani, Aldo;
- Libi, Fabio;
- Sadeghi, Soha;
- Savio, Camilla;
- Petrucci, Simona;
- De Marchis, Laura;
- Piane, Maria;
- Pizzuti, Antonio
Publication type:
Article
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Published in:
Diagnostics (2075-4418), 2022, v. 12, n. 12, p. 2997, doi. 10.3390/diagnostics12122997
By:
- 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
Publication type:
Article
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
Published in:
Diagnostics (2075-4418), 2022, v. 12, n. 11, p. 2684, doi. 10.3390/diagnostics12112684
By:
- 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
Publication type:
Article
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
Published in:
Diagnostics (2075-4418), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/diagnostics12071520
By:
- Germani, Aldo;
- Guadagnolo, Daniele;
- Salvati, Valentina;
- Micolonghi, Caterina;
- Mancini, Rita;
- Mastromoro, Gioia;
- Sadeghi, Soha;
- Petrucci, Simona;
- Pizzuti, Antonio;
- Piane, Maria
Publication type:
Article
Genetic issues in the diagnosis of dystonias.
Published in:
Frontiers in Neurology, 2013, v. 4, p. 1, doi. 10.3389/fneur.2013.00034
By:
- Petrucci, Simona;
- Valente, Enza Maria
Publication type:
Article
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors.
Published in:
Genes, 2023, v. 14, n. 9, p. 1782, doi. 10.3390/genes14091782
By:
- Faggiano, Antongiulio;
- Fazzalari, Beatrice;
- Mikovic, Nevena;
- Russo, Flaminia;
- Zamponi, Virginia;
- Mazzilli, Rossella;
- Guarnieri, Vito;
- Piane, Maria;
- Visco, Vincenzo;
- Petrucci, Simona
Publication type:
Article
A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature.
Published in:
Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01315-5
By:
- 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
Publication type:
Article
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 9787, doi. 10.3390/ijms25189787
By:
- Micolonghi, Caterina;
- Perrone, Federica;
- Fabiani, Marco;
- Caroselli, Silvia;
- Savio, Camilla;
- Pizzuti, Antonio;
- Germani, Aldo;
- Visco, Vincenzo;
- Petrucci, Simona;
- Rubattu, Speranza;
- Piane, Maria
Publication type:
Article
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation.
Published in:
2016
By:
- Ricciardi, Lucia;
- Petrucci, Simona;
- Giuda, Daniela;
- Serra, Laura;
- Spanò, Barbara;
- Sensi, Mariachiara;
- Ginevrino, Monia;
- Cocciolillo, Fabrizio;
- Bozzali, Marco;
- Valente, Enza Maria;
- Fasano, Alfonso
Publication type:
Letter
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
Published in:
Movement Disorders, 2014, v. 29, n. 12, p. 1561, doi. 10.1002/mds.25994
By:
- Ricciardi, Lucia;
- Petrucci, Simona;
- Guidubaldi, Arianna;
- Ialongo, Tamara;
- Serra, Laura;
- Ferraris, Alessandro;
- Spanò, Barbara;
- Bozzali, Marco;
- Valente, Enza Maria;
- Bentivoglio, Anna Rita
Publication type:
Article
Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees.
Published in:
Movement Disorders, 2013, v. 28, n. 6, p. 813, doi. 10.1002/mds.25518
By:
- Elia, Antonio E.;
- Petrucci, Simona;
- Fasano, Alfonso;
- Guidi, Marco;
- Valbonesi, Stefano;
- Bernardini, Laura;
- Consoli, Federica;
- Ferraris, Alessandro;
- Albanese, Alberto;
- Valente, Enza Maria
Publication type:
Article
Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia.
Published in:
Movement Disorders, 2013, v. 28, n. 4, p. 440, doi. 10.1002/mds.25412
By:
- Petrucci, Simona;
- Valente, Enza Maria
Publication type:
Article

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