SIMONA PETRUCCI

Researcher

email: simona.petrucci@uniroma1.it
phone:

Research products

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 (1)

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)

11573/1740702 - 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 (1) - scopus: 2-s2.0-105006931839 (1)

11573/1717788 - 2024 - Seminological, hormonal and ultrasonographic features of male factor infertility due to genetic causes: results from a large monocentric retrospective study

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 - 01a Articolo in rivista

paper: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 1-11 - issn: 2077-0383 - wos: WOS:001287905100001 (0) - scopus: 2-s2.0-85200784914 (1)

11573/1721159 - 2024 - Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review

Micolonghi, Caterina; Perrone, Federica; Fabiani, Marco; Caroselli, Silvia; Savio, Camilla; Pizzuti, Antonio; Germani, Aldo; Visco, Vincenzo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria - 01g Articolo di rassegna (Review)

paper: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:001322885400001 (4) - scopus: 2-s2.0-85205307138 (5)

11573/1714845 - 2024 - Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni - 01i Case report

paper: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:001195297300001 (1) - scopus: 2-s2.0-85189135085 (1)

11573/1678459 - 2023 - Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease?

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 - 01a Articolo in rivista

paper: FRONTIERS IN CARDIOVASCULAR MEDICINE (Lausanne: Frontiers Media S.A., 2014-) pp. 1-4 - issn: 2297-055X - wos: WOS:000970020400001 (6) - scopus: 2-s2.0-85153526285 (10)

11573/1688337 - 2023 - Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors

Faggiano, Antongiulio; Fazzalari, Beatrice; Mikovic, Nevena; Russo, Flaminia; Zamponi, Virginia; Mazzilli, Rossella; Guarnieri, Vito; Piane, Maria; Visco, Vincenzo; Petrucci, Simona - 01a Articolo in rivista

paper: GENES (Basel : Molecular Diversity Preservation International) pp. 1-10 - issn: 2073-4425 - wos: WOS:001074672100001 (3) - scopus: 2-s2.0-85172805573 (3)

11573/1687956 - 2023 - Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio - 01i Case report

paper: BIOMEDICINES (Basel: MDPI) pp. 1-6 - issn: 2227-9059 - wos: WOS:001038003500001 (4) - scopus: 2-s2.0-85175109427 (3)

11573/1686370 - 2023 - European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes

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 - 01a Articolo in rivista

paper: JOURNAL OF NEUROENDOCRINOLOGY (First or current publisher [Oxford, England] : Blackwell Science Current or last publisher Malden, MA : Wiley & Sons) pp. 1-19 - issn: 1365-2826 - wos: WOS:001048580100001 (136) - scopus: 2-s2.0-85168089420 (152)

11573/1682972 - 2023 - Prenatal CFAP53-related laterality defect: case report and review of the literature

Mastromoro, Gioia; Guadagnolo, Daniele; Novelli, Antonio; Torres, Barbara; Piane, Maria; Magliozzi, Monia; Bernardini, Laura; Ventriglia, Flavia; Pizzuti, Antonio; Petrucci, Simona - 01g Articolo di rassegna (Review)

paper: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (London : Taylor & Francis, 2002- London : Parthenon Pub. Group.) pp. - - issn: 1476-4954 - wos: WOS:000969108400001 (2) - scopus: 2-s2.0-85152272340 (3)

11573/1675554 - 2023 - A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

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 - 01i Case report

paper: CURRENT ISSUES IN MOLECULAR BIOLOGY (Basel: MDPI AG Wymondham-Hethersett: Horizon Scientific -Wymondham: Caister Academic.) pp. 2422-2430 - issn: 1467-3045 - wos: WOS:000955690300001 (2) - scopus: 2-s2.0-85151117528 (2)

11573/1686369 - 2023 - The role of genetic testing in suspected fulminant myocarditis: a case report

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 - 01i Case report

paper: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. - - issn: 2214-4269 - wos: WOS:001065774500001 (0) - scopus: 2-s2.0-85168439248 (0)

11573/1673492 - 2023 - Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Sugier, Pierre-Emmanuel; Lucotte, Elise A; Domenighetti, Cloé; Law, Matthew H; Iles, Mark M; Brown, Kevin; Amos, Christopher; Mckay, James D; Hung, Rayjean J; Karimi, Mojgan; Bacq-Daian, Delphine; Boland-Augé, Anne; Olaso, Robert; Deleuze, Jean-François; Lesueur, Fabienne; Ostroumova, Evgenia; Kesminiene, Ausrele; De Vathaire, Florent; Guénel, Pascal; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep; 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, Efthimios; 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; Matsuo, Hirotaka; Nakayama, Akiyoshi; 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; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Rödström, Emil Ygland; Clarke, Carl E; Morrison, Karen E; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matt J; Kruger, Rejko; Gasser, Thomas; Sharma, Manu; Truong, Thérèse; Elbaz, Alexis - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 1-16 - issn: 1531-8257 - wos: WOS:000951688400001 (18) - scopus: 2-s2.0-85148340230 (21)

11573/1667340 - 2023 - Embracing Monogenic Parkinson's Disease. The MJFF Global Genetic PD Cohort

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 - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1-28 - issn: 0885-3185 - wos: WOS:000928274300001 (36) - scopus: 2-s2.0-85147202939 (35)

11573/1649987 - 2022 - From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways

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 - 01a Articolo in rivista

paper: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (Basel: MDPI 2003-) pp. 7806- - issn: 1660-4601 - wos: WOS:000824308200001 (2) - scopus: 2-s2.0-85132756737 (2)

11573/1651024 - 2022 - A dangerous food binge. a case report of hypokalemic periodic paralysis and review of current literature

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 - 01i Case report

paper: THE ITALIAN JOURNAL OF PEDIATRICS (London : BioMed Central Ospedaletto : Pacini Editore) pp. 1-5 - issn: 1824-7288 - wos: WOS:000825995200002 (0) - scopus: 2-s2.0-85134240017 (0)

11573/1655183 - 2022 - The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited

Domenighetti, Cloé; Douillard, Venceslas; Sugier, Pierre-Emmanuel; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep; May, Patrick; Bobbili, Dheeraj R; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B; Hernandez, Dena G; Edsall, Connor; Gourraud, Pierre-Antoine; 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; Nakayama, Akiyoshi; 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; Ygland Rödström, Emil; Clarke, Carl E; Morrison, Karen E; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matt J; Krüger, Rejko; Gasser, Thomas; Sharma, Manu; Vince, Nicolas; Elbaz, Alexis - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 1929-1937 - issn: 1531-8257 - wos: WOS:000822523200001 (8) - scopus: 2-s2.0-85133891525 (9)

11573/1655182 - 2022 - Dairy Intake and Parkinson's Disease. A Mendelian Randomization Study

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 - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 857-864 - issn: 1531-8257 - wos: WOS:000740333300001 (22) - scopus: 2-s2.0-85128406510 (26)

11573/1649699 - 2022 - Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease

Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Sreelatha, Ashwin Ashok Kumar; 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 Pc; Bloem, Bastiaan R; Aasly, Jan; Toft, Mathias; Pihlstrøm, Lasse; Guedes, Leonor Correia; 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 - 01a Articolo in rivista

paper: JOURNAL OF PARKINSON'S DISEASE (Amsterdam : b IOS Press) pp. 1-27 - issn: 1877-7171 - wos: WOS:000747072700020 (51) - scopus: 2-s2.0-85123813753 (46)

11573/1649089 - 2022 - Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria - 01i Case report

paper: DIAGNOSTICS (Basel: MDPI) pp. 1-13 - issn: 2075-4418 - wos: WOS:000832165800001 (0) - scopus: 2-s2.0-85133166200 (0)

11573/1649701 - 2022 - Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease. Evidence From COURAGE-PD Consortium

Grover, Sandeep; Ashwin, Ashok Kumar Sreelatha; Pihlstrom, Lasse; Domenighetti, Cloé; Schulte, Claudia; Sugier, Pierre-Emmanuel; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Mohamed, Océane; Portugal, Berta; Landoulsi, Zied; May, Patrick; Bobbili, Dheeraj; Edsall, Connor; Bartusch, Felix; Hanussek, Maximilian; 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; Kawamura, Yusuke; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Pavelka, Lukas; Van De Warrenburg, Bart Pc; Bloem, Bastiaan R; Singleton, Andrew B; Aasly, Jan; Toft, Mathias; Guedes, Leonor Correia; 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; Krainc, Dimitri; Farrer, Matt J; Kruger, Rejko; Elbaz, Alexis; Gasser, Thomas; Sharma, Manu - 01a Articolo in rivista

paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. - - issn: 0028-3878 - wos: WOS:000840881900019 (41) - scopus: 2-s2.0-85136019610 (46)

11573/1659060 - 2022 - A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

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 - 01i Case report

paper: DIAGNOSTICS (Basel: MDPI) pp. 1-8 - issn: 2075-4418 - wos: WOS:000880902600001 (4) - scopus: 2-s2.0-85141701474 (4)

11573/1672936 - 2022 - CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis

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 - 01i Case report

paper: ARCHIVES OF CLINICAL AND MEDICAL CASE REPORTS (Houston TX: Fortune Journals) pp. - - issn: 2575-9655 - wos: (0) - scopus: (0)

11573/1674605 - 2022 - 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

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 - 01a Articolo in rivista

paper: NEUROLOGICAL SCIENCES (Springer-Verlag Italia Srl:via Decembrio 28, 20137 Milan Italy:011 39 2 5425971, EMAIL: riccardi@springer.it, Fax: 011 39 2 55193360) pp. 6929-6945 - issn: 1590-3478 - wos: WOS:000865200200002 (14) - scopus: 2-s2.0-85139193452 (15)

11573/1673498 - 2022 - Complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature?

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 - 01i Case report

paper: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000900509000001 (3) - scopus: 2-s2.0-85144876162 (3)

11573/1532463 - 2021 - TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report

Cava, F.; Cristiano, E.; Musumeci, M. B.; Savio, C.; Germani, A.; Monaco, M. L.; Petrucci, S.; Torrisi, M. R.; Autore, C.; Rubattu, S.; Piane, M. - 01a Articolo in rivista

paper: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100743- - issn: 2214-4269 - wos: WOS:000656785700001 (1) - scopus: 2-s2.0-85102646298 (4)

11573/1571044 - 2021 - Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings

Guadagnolo, Daniele; Piane, Maria; Torrisi, Maria Rosaria; Pizzuti, Antonio; Petrucci, Simona - 01g Articolo di rassegna (Review)

paper: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1-17 - issn: 1664-2295 - wos: WOS:000703993000001 (51) - scopus: 2-s2.0-85116448186 (50)

11573/1442990 - 2020 - Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism

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 - 01a Articolo in rivista

paper: BRAIN (-Oxford: Oxford University Press -Oxford: Clarendon Press -London: Macmillan -London: Butterworths Scientific Publications, 1878-) pp. 1-11 - issn: 0006-8950 - wos: WOS:000607101500027 (132) - scopus: 2-s2.0-85094685130 (149)

11573/1442555 - 2020 - Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers

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 - 01a Articolo in rivista

paper: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. - - issn: 2077-0383 - wos: WOS:000581319600001 (12) - scopus: 2-s2.0-85114281545 (12)

11573/1442557 - 2020 - Gamma-transcranial alternating current stimulation and theta-burst stimulation. inter-subject variability and the role of BDNF

Guerra, A.; Asci, F.; Zampogna, A.; D'onofrio, V.; Petrucci, S.; Ginevrino, M.; Berardelli, A.; Suppa, A. - 01a Articolo in rivista

paper: CLINICAL NEUROPHYSIOLOGY (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 2691-2699 - issn: 1388-2457 - wos: WOS:000580661200021 (17) - scopus: 2-s2.0-85091626462 (17)

11573/1403890 - 2020 - Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing

Magri', Damiano; Mastromarino, Vittoria; Gallo, Giovanna; Zachara, Elisabetta; Re, Federica; Agostoni, Piergiuseppe; Giordano, Dario; Rubattu, Speranza Donatella; Forte, Maurizio; Cotugno, Enrico Maria; Torrisi, Maria Rosaria; Petrucci, Simona; Germani, Aldo; Savio, Camilla; Maruotti, Antonello; Volpe, Massimo; Autore, Camillo; Piane, Maria; Musumeci, Maria Beatrice - 01a Articolo in rivista

paper: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. - - issn: 2077-0383 - wos: WOS:000549211800001 (18) - scopus: 2-s2.0-85099244241 (17)

11573/1555346 - 2020 - GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort

Petrucci, S.; Ginevrino, M.; Trezzi, I.; Monfrini, E.; Ricciardi, L.; Albanese, A.; Avenali, M.; Barone, P.; Bentivoglio, A. R.; Bonifati, V.; Bove, F.; Bonanni, L.; Brusa, L.; Cereda, C.; Cossu, G.; Criscuolo, C.; Dati, G.; De Rosa, A.; Eleopra, R.; Fabbrini, G.; Fadda, L.; Garbellini, M.; Minafra, B.; Onofrj, M.; Pacchetti, C.; Palmieri, I.; Pellecchia, M. T.; Petracca, M.; Picillo, M.; Pisani, A.; Vallelunga, A.; Zangaglia, R.; Di Fonzo, A.; Morgante, F.; Valente, E. M.; Altavista, M. C.; Amboni, M.; Ardolino, G.; Berardelli, A.; Cogiamanian, F.; Colosimo, C.; Costanti, D.; De Michele, G.; Bonaventura, C. D.; Di Lazzaro, G.; Di Lazzaro, V.; Emanuele Elia, A.; Erro, R.; Ferrazzano, G.; Guerra, A.; Ialongo, T.; Malaguti, M. C.; Melis, M.; Moro, E.; Oppo, V.; Ottaviani, D.; Peluso, S.; Quadri, M. L.; Romito, L. M.; Sarchioto, M.; Schirinzi, T.; Sorbera, C.; Stefani, A.; Thomas, A.; Valente, M. L.; Volpe, G; Ita-Gene-Pd Study, Group. - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 2106-2111 - issn: 0885-3185 - wos: WOS:000547743300001 (113) - scopus: 2-s2.0-85087789720 (117)

11573/1383067 - 2020 - Young-onset and late-onset Parkinson's disease exhibit a different profile of fluid biomarkers and clinical features

Schirinzi, T.; Di Lazzaro, G.; Sancesario, G. M.; Summa, S.; Petrucci, S.; Colona, V. L.; Bernardini, S.; Pierantozzi, M.; Stefani, A.; Mercuri, N. B.; Pisani, A. - 01a Articolo in rivista

paper: NEUROBIOLOGY OF AGING (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 119-124 - issn: 0197-4580 - wos: WOS:000526108000012 (64) - scopus: 2-s2.0-85081274521 (63)

11573/1383117 - 2019 - Aberrant function of the C-terminal tail of HIST1H1E Aacelerates cellular senescence and causes premature aging

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 - 01a Articolo in rivista

paper: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 493-508 - issn: 0002-9297 - wos: WOS:000484435700005 (49) - scopus: 2-s2.0-85071515684 (48)

11573/1348926 - 2019 - Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas. insights into molecular properties of selected exostosin variants

Fusco, C; Nardella, Grazia; Fischetto, R; Copetti, M; Petracca, A; Annunziata, F; Augello, B; D'asdia, Mc; Petrucci, S; Mattina, T; Rella, A; Cassina, M; Bengala, M; Biagini, T; Causio, Fa; Caldarini, C; Brancati, F; De Luca, A; Guarnieri, V; Micale, L; D'agruma, L; Castori, M. - 01a Articolo in rivista

paper: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 2133-2142 - issn: 0964-6906 - wos: WOS:000474259700003 (15) - scopus: 2-s2.0-85067547214 (16)

11573/1383121 - 2019 - Using global team science to identify genetic parkinson's disease worldwide

Vollstedt, E. -J.; Kasten, M.; Klein, C.; Aasly, J.; Adler, C.; Ahmad-Annuar, A.; Albanese, A.; Alcalay, R. N.; Al-Mubarak, B.; Alvarez, V.; Andree-Munoz, B.; Annesi, G.; Appel-Cresswell, S.; Arkadir, D.; Armasu, S.; Barber, T. R.; Bardien, S.; Barkhuizen, M.; Barrett, M. J.; Basak, A. N.; Beach, T.; Benitez, B. A.; Berg, D.; Bhatia, K.; Binkofski, F.; Blauwendraat, C.; Bonifati, V.; Borges, V.; Bozi, M.; Brice, A.; Brighina, L.; Brockmann, K.; Brucke, T.; Bruggemann, N.; Camacho, M.; Cardoso, F.; Belin, A. C.; Carr, J.; Chan, P.; Chang-Castello, J.; Chase, B.; Chen-Plotkin, A.; Ju Chung, S.; Cilia, R.; Clarimon, J.; Clark, L.; Cornejo-Olivas, M.; Corvol, J. -C.; Cosentino, C.; Cras, P.; Crosiers, D.; Damasio, J.; Das, P.; De Carvalho Aguiar, P.; De Michele, G.; De Rosa, A.; Dieguez, E.; Dorszewska, J.; Erer, S.; Ertan, S.; Farrer, M.; Fedotova, E.; Ferese, R.; Ferrarese, C.; Ferraz, H.; Fiala, O.; Foroud, T.; Friedman, A.; Frigerio, R.; Funayama, M.; Gambardella, S.; Garraux, G.; Gatto, E. M.; Genc, G.; Giladi, N.; Goldwurm, S.; Gomez-Esteban, J. C.; Gomez-Garre, P.; Gorostidi, A.; Grosset, D.; Hanagasi, H.; Hardy, J.; Hassan, A.; Hattori, N.; Hauser, R. A.; Hedera, P.; Hentati, F.; Hertz, J. M.; Holton, J. L.; Houlden, H.; Hutz, M. H.; Ikeuchi, T.; Illarioshkin, S.; Inca-Martinez, M.; Infante, J.; Jankovic, J.; Jeon, B. S.; Jesus, S.; Jimenez-Del-Rio, M.; Kaasinen, V.; Kasten, M.; Kataoka, H.; Kawakami, H.; Kim, Y. J.; Klein, C.; Klivenyi, P.; Koks, S.; Konig, I. R.; Kostic, V.; Koziorowski, D.; Kruger, R.; Krygowska-Wajs, A.; Kulisevsky, J.; Lai, D.; Lang, A.; Ledoux, M.; Lesage, S.; Lim, S. -Y.; Lin, C. -H.; Lohmann, K.; Lopera, F.; Lopez, G.; Lu, C. -S.; Lynch, T.; Machaczka, M.; Madoev, H.; Magalhaes, M.; Majamaa, K.; Maraganore, D.; Marder, K.; Markopoulou, K.; Martikainen, M. H.; Mata, I.; Mazzetti, P.; Mellick, G.; Menendez-Gonzalez, M.; Micheli, F.; Mirelman, A.; Mir, P.; Morino, H.; Morris, H.; Munhoz, R. P.; Naito, A.; Olszewska, D. A.; Ozelius, L. J.; Padmanabhan, S.; Paisan-Ruiz, C.; Payami, H.; Peluso, S.; Petkovic, S.; Petrucci, S.; Pezzoli, G.; Pimentel, M.; Pirker, W.; Pramstaller, P. P.; Pulkes, T.; Puschmann, A.; Quattrone, A.; Raggio, V.; Ransmayr, G.; Rieder, C.; Riess, O.; Rodriguez-Porcel, F.; Rogaeva, E.; Ross, O. A.; Ruiz-Martinez, J.; Sammler, E.; San Luciano, M.; Satake, W.; Saunders-Pullman, R.; Sazci, A.; Scherzer, C.; Schrag, A.; Schumacher-Schuh, A.; Sharma, M.; Sidransky, E.; Singleton, A. B.; Petersen, M. S.; Smolders, S.; Spitz, M.; Stefanis, L.; Struhal, W.; Sue, C. M.; Swan, M.; Swanberg, M.; Taba, P.; Taipa, R.; Tan, M.; Tan, A. H.; Tan, E. -K.; Tang, B.; Tayebi, N.; Thaler, A.; Thomas, A.; Toda, T.; Toft, M.; Torres, L.; Tumas, V.; Valente, E. M.; Van Broeckhoven, C.; Vecsei, L.; Velez-Pardo, C.; Vidailhet, M.; Vollstedt, E. -J.; Warner, T. T.; Williams-Gray, C. H.; Winkelmann, J.; Woitalla, D.; Wood, N. W.; Wszolek, Z. K.; Wu, R. -M.; Wu, Y. -R.; Xie, T.; Yoshino, H.; Zhang, B.; Zimprich, A. - 01a Articolo in rivista

paper: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 153-157 - issn: 0364-5134 - wos: WOS:000475670500001 (30) - scopus: 2-s2.0-85068207273 (29)

11573/1383111 - 2018 - Frequency of loss of function variants in LRRK2 in Parkinson disease

Blauwendraat, C.; Reed, X.; Kia, D. A.; Gan-Or, Z.; Lesage, S.; Pihlstrom, L.; Guerreiro, R.; Gibbs, J. R.; Sabir, M.; Ahmed, S.; Ding, J.; Alcalay, R. N.; Hassin-Baer, S.; Pittman, A. M.; Brooks, J.; Edsall, C.; Hernandez, D. G.; Chung, S. J.; Goldwurm, S.; Toft, M.; Schulte, C.; Bras, J.; Wood, N. W.; Brice, A.; Morris, H. R.; Scholz, S. W.; Nalls, M. A.; Singleton, A. B.; Cookson, M. R.; Gasser, T.; Sharma, M.; Simon-Sanchez, J.; Heutink, P.; Giri, A.; Brockmann, K.; Oertel, W.; Klein, C.; Mohamed, F.; Malard, L.; Elbaz, A.; Corti, O.; Drouet, V.; Corvol, J. -C.; Tesei, S.; Canesi, M.; Valente, E. M.; Petrucci, S.; Ginevrino, M.; Aasly, J.; Houlden, H.; Hardy, J.; Orr-Urtreger, A.; Giladi, N.; Ferreira, J.; Guedes, L. C.; Bouca-Machado, R.; Coelho, M.; Rosa, M. M.; Tolosa, E.; Fernandez, R.; Ezquerra, M.; Marti, M. J.; Kruger, R.; May, P.; Glaab, E.; Balling, R.; Agid, Y.; Anheim, M.; Bonnet, A. -M.; Borg, M.; Broussolle, E.; Damier, P.; Destee, A.; Durr, A.; Durif, F.; Krack, P.; Klebe, S.; Lohmann, E.; Martinez, M.; Penet, C.; Pollak, P.; Rascol, O.; Tison, F.; Tranchant, C.; Verin, M.; Viallet, F.; Vidailhet, M.; Noyce, A. J.; Kaiyrzhanov, R.; Middlehurst, B.; Tan, M.; Plun-Favreau, H.; Holmans, P.; Trabzuni, D.; Quinn, J.; Mok, K. Y.; Kinghorn, K. J.; Billingsley, K.; Topley, Lewis; Lovering, R.; R'bibo, L.; Manzoni, C.; Rizig, M.; Ryten, M.; Guelfi, S.; Escott-Price, V.; Chelban, V.; Foltynie, T.; Williams, N.; Shashakin, C.; Zharkinbekova, N.; Zholdybayeva, E.; Aitkulova, A.; Danjou, F.; Rizzu, P.; Bandres-Ciga, S.; Craig, D. W.; Faghri, F.; Van Keuren-Jensen, K.; Shulman, J. M.; Leonard, H. L.; Robak, L.; Lubbe, S.; Finkbeiner, S.; Mencacci, N. E.; Lungu, C.; Rouleau, G. A.; Van Hilten, J. J.; Van Ijzendoorn, Marinus; Botia, J. A.; Clarimon, J.; Pastor, P.; Zimprich, A.; Pihlstrom, L.; Koks, S.; Taba, P. - 01a Articolo in rivista

paper: JAMA NEUROLOGY (Chicago, IL : American Medical Association, [2013]-) pp. 1416-1422 - issn: 2168-6149 - wos: WOS:000449955900015 (62) - scopus: 2-s2.0-85056328533 (67)

11573/1383113 - 2018 - Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation

Stamelou, M.; Petrucci, S.; Ginevrino, M.; Pons, R.; Papagiannakis, N.; Stefanis, L.; Valente, E. M. - 01i Case report

paper: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 1-1 - issn: 0022-510X - wos: WOS:000430899700033 (0) - scopus: 2-s2.0-85044156685 (0)

11573/1383115 - 2018 - Whole-exome sequencing for variant discovery in blepharospasm

Tian, J.; Vemula, S. R.; Xiao, J.; Valente, E. M.; Defazio, G.; Petrucci, S.; Gigante, A. F.; Rudzinska-Bar, M.; Wszolek, Z. K.; Kennelly, K. D.; Uitti, R. J.; Van Gerpen, J. A.; Hedera, P.; Trimble, E. J.; Ledoux, M. S. - 01a Articolo in rivista

paper: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. 601-626 - issn: 2324-9269 - wos: WOS:000441004000014 (17) - scopus: 2-s2.0-85047660709 (23)

11573/1383109 - 2017 - NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Blauwendraat, C.; Faghri, F.; Pihlstrom, L.; Geiger, J. T.; Elbaz, A.; Lesage, S.; Corvol, J. -C.; May, P.; Nicolas, A.; Abramzon, Y.; Murphy, N. A.; Gibbs, J. R.; Ryten, M.; Ferrari, R.; Bras, J.; Guerreiro, R.; Williams, J.; Sims, R.; Lubbe, S.; Hernandez, D. G.; Mok, K. Y.; Robak, L.; Campbell, R. H.; Rogaeva, E.; Traynor, B. J.; Chia, R.; Chung, S. J.; Hardy, J. A.; Brice, A.; Wood, N. W.; Houlden, H.; Shulman, J. M.; Morris, H. R.; Gasser, T.; Kruger, R.; Heutink, P.; Sharma, M.; Simon-Sanchez, J.; Nalls, M. A.; Singleton, A. B.; Scholz, S. W.; Noyce, A. J.; Brice, A.; Brice, A.; Brice, A.; Giri, A.; Oehmig, A.; Tucci, A.; Nicolas, A.; Schulte, C.; Cookson, M. R.; Blauwendraat, C.; Kia, D.; Danjou, F.; Danjou, F.; Danjou, F.; Faghri, F.; Faghri, F.; Charlesworth, G.; Gibbs, J. R.; Gibbs, J. R.; Morris, H. R.; Plun-Favreau, H.; Hernandez, D. G.; Hernandez, D. G.; Holmans, P.; Morris, H. R.; Jansen, I.; Hardy, J.; Simon-Sanchez, J.; Bras, J. M.; Shulman, J. M.; Quinn, J.; Botia, J. A.; Mok, K. Y.; Billingsley, K.; Pihlstrom, L.; R'bibo, L.; Lungu, C.; Sharma, M.; Martinez, M.; Ryten, M.; Escott-Price, V.; Mencacci, N. E.; Nalls, M. A.; Nalls, M. A.; Wood, N. W.; Topley, Lewis; Denny, P.; Heutink, P.; Rizzu, P.; Taba, P.; Guerreiro, R.; Lovering, R.; Ogalla, R. D.; Foulger, R.; Robak, L.; Lubbe, S.; Finkbeiner, S.; Finkbeiner, S.; Sveinbjornsdottir, S.; Sveinbjornsdottir, S.; Sveinbjornsdottir, S.; Singleton, A. B.; Scholz, S.; Koks, S.; Lesage, S.; Lesage, S.; Lesage, S.; Corvol, J. -C.; Corvol, J. -C.; Corvol, J. -C.; Corvol, J. -C.; Foltynie, T.; Gasser, T.; Price, T. R.; Sheerin, U. -M.; Williams, N.; Reed, X.; Gasser, T.; Kruger, R.; Sharma, M.; Simon-Sanchez, J.; Schulte, C.; Heutink, P.; Wang, L.; Giri, A.; Brockmann, K.; Oertel, W.; Klein, C.; Mohamed, F.; Malard, L.; Elbaz, A.; Lesage, S.; Corti, O.; Drouet, V.; Corvol, J. -C.; Brice, A.; Goldwurm, S.; Tesei, S.; Canesi, M.; Valente, E. M.; Petrucci, S.; Petrucci, S.; Ginevrino, M.; Ginevrino, M.; Toft, M.; Pihlstrom, L.; Aasly, J.; Henriksen, S. P.; Saetehaug, C.; Wood, N. W.; Houlden, H.; Hardy, J.; Bras, J.; Orr-Urtreger, A.; Giladi, N.; Ferreira, J.; Guedes, L. C.; Guedes, L. C.; Bouca-Machado, R.; Coelho, M.; Coelho, M.; Rosa, M. M.; Rosa, M. M.; Tolosa, E.; Fernandez-Santiago, R.; Ezquerra, M.; Marti, M. J.; Kruger, R.; May, P.; Glaab, E.; Balling, R.; Heutink, P.; Chung, S. -J. - 01a Articolo in rivista

paper: NEUROBIOLOGY OF AGING (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 247e9-247e13 - issn: 0197-4580 - wos: WOS:000406296500027 (107) - scopus: 2-s2.0-85020407918 (109)

11573/935796 - 2017 - DYT2 screening in early-onset isolated dystonia

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 - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 269-271 - issn: 1090-3798 - wos: WOS:000395954600008 (12) - scopus: 2-s2.0-85008698228 (15)

11573/932012 - 2017 - BDNF and LTP-/LTD-like plasticity of the primary motor cortex in Gilles de la Tourette syndrome

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 - 01a Articolo in rivista

paper: EXPERIMENTAL BRAIN RESEARCH (Germany: Springer Verlag) pp. 841-850 - issn: 0014-4819 - wos: WOS:000395068900018 (16) - scopus: 2-s2.0-85000607270 (18)

11573/1020790 - 2017 - Genetic paradoxes in an italian family with PARK2 multiexon duplication

Petrucci, Simona; Ferrazzano, Gina; Ginevrino, Monia; Tolve, Manuela; Berardelli, Isabella; Berardelli, Alfredo; Fabbrini, Giovanni; Valente, Enza Maria - 01i Case report

paper: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 889-892 - issn: 2330-1619 - wos: WOS:000417125900015 (1) - scopus: 2-s2.0-85067376177 (1)

11573/1020803 - 2017 - Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier

Picillo, Marina; Petrucci, Simona; Valente, Enza Maria; Pappatà, Sabina; Squame, Fiorenzo; Ginevrino, Monia; Pace, Leonardo; Barone, Paolo; Pellecchia, Maria Teresa - 01i Case report

paper: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 444-446 - issn: 2330-1619 - wos: WOS:000402925500024 (14) - scopus: 2-s2.0-85067375102 (14)

11573/935799 - 2016 - Frequenza e spettro fenotipico del gene GBA in una ampia casistica italiana di pazienti con malattia di Parkinson

Ginevrino, M.; Petrucci, Simona; Pellecchia, M. T.; Di Fonzo, A.; Altavista, M. C.; Bove, F.; Cozzolino, A.; Criscuolo, C.; De Rosa, A.; Fabbrini, Giovanni; Moccia, M.; Morgante, F.; Petracca, M.; Squillante, M.; Trezza, I.; Volpe, G.; Bentivoglio, A. R.; Berardelli, Alfredo; Barone, P.; Valente, E. M. - 04f Poster

conference: XIX Congresso nazionale SIGU (Torinio)

11573/935792 - 2016 - Brain connectivity changes in autosomal recessive Parkinson disease. A model for the sporadic form

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 - 01a Articolo in rivista

paper: PLOS ONE (San Francisco, CA : Public Library of Science) pp. 1-16 - issn: 1932-6203 - wos: WOS:000389604900011 (9) - scopus: 2-s2.0-84992756733 (10)

11573/935797 - 2016 - Impulsive-compulsive behaviors in parkin -associated Parkinson disease

Morgante, Francesca; Fasano, Alfonso; Ginevrino, Monia; Petrucci, Simona; Ricciardi, Lucia; Bove, Francesco; Criscuolo, Chiara; Moccia, Marcello; De Rosa, Anna; Sorbera, Chiara; Bentivoglio, Anna Rita; Barone, Paolo; De Michele, Giuseppe; Pellecchia, Maria Teresa; Valente, Enza Maria - 01a Articolo in rivista

paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1436-1441 - issn: 0028-3878 - wos: WOS:000385656700010 (65) - scopus: 2-s2.0-84989810847 (68)

11573/935798 - 2016 - Paradossi genotipo-fenotipo in una famiglia italiana con una duplicazione multiesonica del gene Parkin

Petrucci, Simona; Ginevrino, M.; Ferrazzano, Gina; Carducci, Carla; Fabbrini, Giovanni; Berardelli, Alfredo; Valente, E. M. - 04f Poster

11573/856888 - 2016 - Phenotypic spectrum of alpha-synuclein mutations. New insights from patients and cellular models

Petrucci, Simona; Ginevrino, Monia; Valente, Enza Maria - 01a Articolo in rivista

paper: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. S16-S20 - issn: 1353-8020 - wos: WOS:000366781900004 (99) - scopus: 2-s2.0-84947864130 (107)

11573/856869 - 2016 - The Contursi Family 20 years later. intrafamilial phenotypic variability of the SNCA p.A53T mutation

Ricciardi, Lucia; Petrucci, Simona; Di Giuda, Daniela; Serra, Laura; Spanò, Barbara; Sensi, Mariachiara; Ginevrino, Monia; Cocciolillo, Fabrizio; Bozzali, Marco; Valente, Enza Maria; Fasano, Alfonso - 01f Lettera, Nota

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 257-258 - issn: 0885-3185 - wos: WOS:000370152100013 (17) - scopus: 2-s2.0-85010986681 (20)

11573/813088 - 2015 - Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs

Giacopo, Raffaella Di; Cianetti, Luciano; Caputo, Viviana; Torraca, Ilaria La; Piemonte, Fiorella; Ciolfi, Andrea; Petrucci, Simona; Carta, Claudio; Mariotti, Paolo; Leuzzi, Vincenzo; Valente, Enza Maria; J, ; D'amico, Adele; Bentivoglio, Annarita; Bertini, Enrico; Tartaglia, Marco; Zampino, Giuseppe - 01a Articolo in rivista

paper: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 65-71 - issn: 0022-510X - wos: WOS:000360950800012 (27) - scopus: 2-s2.0-84939261656 (26)

11573/1426301 - 2015 - Genetics and Molecular Biology of Parkinson Disease

Petrucci, S.; Arena, G.; Valente, E. M. - 02a Capitolo o Articolo

book: Movement Disorders. Genetics and Models - (9780124051959)

11573/856967 - 2015 - Frequency and clinical features of GBA mutations in Italian patients with Parkinson disease

Petrucci, Simona; Colosimo, Carlo; Fabbrini, Giovanni; Berardelli, Alfredo; Ginevrino, Monia; Pellecchia, Maria Teresa; Altavista, Maria Concetta; Bove, Francesco; Cozzolino, Autilia; Criscuolo, Chiara; De Rosa, Anna; Morgante, Francesca; Martina, ; Squillante, Massimo; Volpe, Giampiero; Barone, Paolo; Valente, Enza Maria - 04f Poster

conference: Congresso Accademia LIMPE-DISMOV (Torino)

book: Frequency and clinical features of GBA mutations in Italian patients with Parkinson disease - ()

11573/1383082 - 2014 - The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

Heckman, M. G.; Elbaz, A.; Soto-Ortolaza, A. I.; Serie, D. J.; Aasly, J. O.; Annesi, G.; Auburger, G.; Bacon, J. A.; Boczarska-Jedynak, M.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. -C.; Dardiotis, E.; Destee, A.; Ferrarese, C.; Ferraris, A.; Fiske, B.; Gispert, S.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lin, C. -H.; Lohmann, K.; Loriot, M. -A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Opala, G.; Park, S. S.; Petrucci, S.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; Vassilatis, D. K.; Vilarino-Guell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. -M.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J.; Ross, O. A. - 01a Articolo in rivista

paper: NEUROBIOLOGY OF AGING (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 1-10 - issn: 0197-4580 - wos: WOS:000326898400030 (14) - scopus: 2-s2.0-84885187895 (33)

11573/1383072 - 2014 - Parkinson disease genetics. A “continuum” from mendelian to multifactorial inheritance

Petrucci, S.; Consoli, F.; Valente, E. M. - 01g Articolo di rassegna (Review)

paper: CURRENT MOLECULAR MEDICINE (Bentham Science Publishers BV:PO Box 7917, Exec Ste Y 26, Saif Zone Sharjah Uae:011 971 6 5571132, EMAIL: benthams@emirates.net.ae, INTERNET: http://www.bentham.org, Fax: 011 971 6 5571134) pp. 1079-1088 - issn: 1566-5240 - wos: WOS:000344929400015 (24) - scopus: 2-s2.0-84911464006 (31)

11573/1383103 - 2014 - Phenotypic variability of PINK1 expression. 12 Years' clinical follow-up of two Italian families

Ricciardi, L.; Petrucci, S.; Guidubaldi, A.; Ialongo, T.; Serra, L.; Ferraris, A.; Spano, B.; Bozzali, M.; Valente, E. M.; Bentivoglio, A. R. - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1561-1566 - issn: 0885-3185 - wos: WOS:000342793700017 (52) - scopus: 2-s2.0-84927547966 (53)

11573/1383107 - 2014 - Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Theuns, J.; Verstraeten, A.; Sleegers, K.; Wauters, E.; Gijselinck, I.; Smolders, S.; Crosiers, D.; Corsmit, E.; Elinck, E.; Sharma, M.; Kruger, R.; Lesage, S.; Brice, A.; Chung, S. J.; Kim, M. -J.; Kim, Y. J.; Ross, O. A.; Wszolek, Z. K.; Rogaeva, E.; Xi, Z.; Lang, A. E.; Klein, C.; Weissbach, A.; Mellick, G. D.; Silburn, P. A.; Hadjigeorgiou, G. M.; Dardiotis, E.; Hattori, N.; Ogaki, K.; Tan, E. -K.; Zhao, Y.; Aasly, J.; Valente, E. M.; Petrucci, S.; Annesi, G.; Quattrone, A.; Ferrarese, C.; Brighina, L.; Deutschlander, A.; Puschmann, A.; Nilsson, C.; Garraux, G.; Ledoux, M. S.; Pfeiffer, R. F.; Boczarska-Jedynak, M.; Opala, G.; Maraganore, D. M.; Engelborghs, S.; De Deyn, P. P.; Cras, P.; Cruts, M.; Van Broeckhoven, C. - 01a Articolo in rivista

paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1906-1913 - issn: 0028-3878 - wos: WOS:000345301000007 (57) - scopus: 2-s2.0-84961289268 (64)

11573/1383078 - 2013 - Alpha-synuclein gene duplication. Marked intrafamilial variability in two novel pedigrees

Elia, A. E.; Petrucci, S.; Fasano, A.; Guidi, M.; Valbonesi, S.; Bernardini, L.; Consoli, F.; Ferraris, A.; Albanese, A.; Valente, E. M. - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 813-817 - issn: 0885-3185 - wos: WOS:000320941200026 (29) - scopus: 2-s2.0-84879605074 (34)

11573/1383084 - 2013 - Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

Heckman, M. G.; Soto-Ortolaza, A. I.; Aasly, J. O.; Abahuni, N.; Annesi, G.; Bacon, J. A.; Bardien, S.; Bozi, M.; Brice, A.; Brighina, L.; Carr, J.; Chartier-Harlin, M. -C.; Dardiotis, E.; Dickson, D. W.; Diehl, N. N.; Elbaz, A.; Ferrarese, C.; Fiske, B.; Gibson, J. M.; Gibson, R.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Boczarska-Jedynak, M.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lesage, S.; Lin, C. -H.; Lynch, T.; Maraganore, D. M.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Park, S. S.; Petrucci, S.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Theuns, J.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; Van Broeckhoven, C.; Van De Loo, S.; Vassilatis, D. K.; Vilarino-Guell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. -M.; Hentati, F.; Farrer, M. J.; Ross, O. A. - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1740-1744 - issn: 0885-3185 - wos: WOS:000326065900025 (28) - scopus: 2-s2.0-84886446293 (29)

11573/1383092 - 2013 - Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies

Onofrj, M.; Varanese, S.; Bonanni, L.; Taylor, J. -P.; Antonini, A.; Valente, E. M.; Petrucci, S.; Stocchi, F.; Thomas, A.; Perfetti, B. - 01a Articolo in rivista

paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1731-1742 - issn: 0340-5354 - wos: WOS:000321610500005 (24) - scopus: 2-s2.0-84880322833 (27)

11573/1383095 - 2013 - Genetic issues in the diagnosis of dystonias

Petrucci, S.; Valente, E. M. - 01g Articolo di rassegna (Review)

paper: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1-7 - issn: 1664-2295 - wos: WOS:000209629000034 (16) - scopus: 2-s2.0-84878696432 (21)

11573/1383101 - 2013 - Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia

Petrucci, S.; Valente, E. M. - 01m Editorial/Introduzione in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 440-440 - issn: 0885-3185 - wos: WOS:000317366100007 (1) - scopus: 2-s2.0-84876023105 (2)

11573/1349791 - 2013 - Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease

Stefani, A; Marzetti, F; Pierantozzi, M; Petrucci, S; Olivola, E; Galati, S; Bassi, Ms; Imbriani, P; Valente, Em; Pastore, Fs. - 01a Articolo in rivista

paper: NEUROLOGICAL SCIENCES (Springer-Verlag Italia Srl:via Decembrio 28, 20137 Milan Italy:011 39 2 5425971, EMAIL: riccardi@springer.it, Fax: 011 39 2 55193360) pp. 383-386 - issn: 1590-3478 - wos: WOS:000315566300016 (10) - scopus: 2-s2.0-84879695694 (9)

11573/380158 - 2011 - Mitochondrial disfunction as a cause of ALS

Pizzuti, Antonio; Petrucci, S. - 01a Articolo in rivista

paper: ARCHIVES ITALIENNES DE BIOLOGIE (-Pisa : Pacini -Pisa Italy: DIP Fisiologia Biochimica) pp. 113-119 - issn: 0003-9829 - wos: WOS:000290546800009 (12) - scopus: 2-s2.0-79952834573 (13)

11573/228827 - 2010 - Intravenous Levetiracetam as first-line treatment of status epilepticus in the elderly

Fattouch, Jinane; Di Bonaventura, C.; Casciato, Sara; Bonini, F.; Petrucci, S.; Lapenta, L.; Manfredi, Mario; Prencipe, Massimiliano; Giallonardo, Anna Teresa - 01b Commento, Erratum, Replica e simili

paper: ACTA NEUROLOGICA SCANDINAVICA (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 418-421 - issn: 0001-6314 - wos: WOS:000277783900009 (34) - scopus: 2-s2.0-77952653328 (44)

11573/362245 - 2010 - Focal epileptic seizure induced by transient hypoglycaemia in insulin-treated diabetes.

Lapenta, L.; Carlo Di Bonaventura, ; Fattouch, Jinane; Bonini, F.; Petrucci, S.; Gagliardi, Silvia; Casciato, Sara; Manfredi, Mario; Prencipe, Massimiliano; Giallonardo, Anna Teresa - 01b Commento, Erratum, Replica e simili

paper: EPILEPTIC DISORDERS (John Libby Eurotext Ltd:127 avenue de la Republique, F 92120 Montrouge France:011 33 1 46730660, EMAIL: marketing@jle.com, INTERNET: http://www.john-libbey-eurotext.fr, Fax: 011 33 1 40840999) pp. 84-87 - issn: 1294-9361 - wos: WOS:000276139700013 (17) - scopus: 2-s2.0-77952317297 (18)

11573/225616 - 2009 - Diffusion-weighted magnetic resonance imaging in patients with partial status epilepticus

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 - 01a Articolo in rivista

paper: EPILEPSIA (Hoboken: John Wiley & Sons Copenhagen: E. Munksgaard) pp. 45-52 - issn: 0013-9580 - wos: WOS:000262150700009 (66) - scopus: 2-s2.0-58149316330 (77)

11573/362279 - 2008 - Electrical status epilepticus "invisible" to surface EEG in late-onset Rasmussen encephalitis

Fattouch, Jinane; Carlo Di, Bonaventura; G., Di Gennaro; P. P., Quarato; S., Petrucci; Manfredi, Mario; Prencipe, Massimiliano; Esposito, Vincenzo; Giallonardo, Anna Teresa - 01a Articolo in rivista

paper: EPILEPTIC DISORDERS (John Libby Eurotext Ltd:127 avenue de la Republique, F 92120 Montrouge France:011 33 1 46730660, EMAIL: marketing@jle.com, INTERNET: http://www.john-libbey-eurotext.fr, Fax: 011 33 1 40840999) pp. 219-222 - issn: 1294-9361 - wos: WOS:000259391200005 (6) - scopus: 2-s2.0-53349128696 (8)