VALENTE, ENZA MARIA
VALENTE, ENZA MARIA
DIPARTIMENTO DI PEDIATRIA (attivo dal 01/07/2010 al 01/11/2018)
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
2007 Brancati, F.; Barrano, G.; Silhavy, J. L.; Marsh, S. E.; Travaglini, L.; Bielas, S. L.; Amorini, M.; Zablocka, D.; Kayserili, H.; Al-Gazali, L.; Bertini, E.; Boltshauser, E.; D'Hooghe, M.; Fazzi, Eleonora; Fenerci, E. Y.; Hennekam, R. C. M.; Kiss, A.; Lees, M. M.; Marco, E.; Phadke, S. R.; Rigoli, L.; Romano, S.; Salpietro, C. D.; Sherr, E. H.; Signorini, S.; Stromme, P.; Stuart, B.; Sztriha, L.; Viskochil, D. H.; Yuksel, A.; Dallapiccola, B.; Valente, E. M.; Gleeson, J. G.; Grattan-Smith, P.; Leventer, R.; Janecke, A.; Van Coster, R.; Dias, K.; Moco, C.; MOREIRA DA SILVA, CLAUDIA ALEXANDRA; Chong, A. K.; Maegawa, G.; Abdel-Salam, G. M. H.; Abdel-Aleem, A.; Zaki, M. S.; Marti, I.; Quijano-Roy, S.; De Lonlay, P.; Verloes, A.; Touraine, R.; Koenig, M.; Lagier-Tourenne, C.; Messer, J.; Philippi, H.; Tzeli, S. K.; Halldorsson, S.; Johannsdottir, J.; Ludvigsson, P.; Magee, A.; Lev, D.; Michelson, M.; Ben-Zeev, B.; Fischetto, R.; Gentile, M.; Battaglia, S.; Giordano, L.; Boccone, L.; Ruggieri, M.; Bigoni, S.; Ferlini, A.; Donati, M. A.; Procopio, E.; Caridi, G.; Faravelli, F.; Ghiggeri, G.; Briuglia, S.; Tortorella, G.; D'Arrigo, S.; Pantaleoni, C.; Riva, D.; Uziel, G.; Lavercla, A. M.; Permunian, A.; Bova, S.; Battini, Roberta; Cilio, M. R.; DI SABATO, Manuela; Emma, F.; Leuzzi, V.; Parisi, P.; Simonati, A.; Al-Tawari, A. A.; Bastaki, L.; Aqeel, A.; De Jong, M. M.; Koul, R.; Rajab, A.; Azam, M.; Barbot, C.; Rodriguez, B.; Pascual-Castroviejo, I.; Comu, S.; Akcakus, M.; Nicholl, D.; Woods, C. G.; Bennett, C.; Hurst, J.; Walsh, C. A.; Bernes, S.; Sanchez, H.; Clark, A. E.; Donahue, C.; Hahn, J.; Sanger, T. D.; Gallager, T. E.; Dobyns, W. B.; Daugherty, C.; Krishnamoorthy, K. S.; Sarco, D.; Mckanna, T.; Milisa, J.; Chung, W. K.; De Vivo, D. C.; Raynes, H.; Schubert, R.; Seward, A.; Brooks, D. G.; Goldstein, A.; Caldwell, J.; Finsecke, E.; Maria, B. L.; Holden, K.; Cruse, R. P.; Swoboda, K. J.
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
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
Genetic paradoxes in an italian family with PARK2 multiexon duplication
2017 Petrucci, Simona; Ferrazzano, Gina; Ginevrino, Monia; Tolve, Manuela; Berardelli, Isabella; Berardelli, Alfredo; Fabbrini, Giovanni; Valente, ENZA MARIA
Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease. Evidence From COURAGE-PD Consortium
2022 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
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
2021 D'Abrusco, F.; Arrigoni, F.; Serpieri, V.; Romaniello, R.; Caputi, C.; Manti, F.; Jocic-Jakubi, B.; Lucarelli, E.; Panzeri, E.; Bonaglia, M. C.; Chiapparini, L.; Pichiecchio, A.; Pinelli, L.; Righini, A.; Leuzzi, V.; Borgatti, R.; Valente, E. M.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
2017 De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, ENZA MARIA
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
2023 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
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease
2022 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
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism
2020 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
Next generation molecular diagnosis of hereditary spastic paraplegias: an italian cross-sectional study
2018 D'Amore, A.; Tessa, A.; Casali, C.; Dotti, M. T.; Filla, A.; Silvestri, G.; Antenora, A.; Astrea, G.; Barghigiani, M.; Battini, R.; Battisti, C.; Bruno, I.; Cereda, C.; Dato, C.; Di Iorio, G.; Donadio, V.; Felicori, M.; Fini, N.; Fiorillo, C.; Gallone, S.; Gemignani, F.; Gigli, G. L.; Graziano, C.; Guerrini, R.; Gurrieri, F.; Kariminejad, A.; Lieto, M.; Marques LourenCo, C.; Malandrini, A.; Mandich, P.; Marcotulli, C.; Mari, F.; Massacesi, L.; Melone, M. A. B.; Mignarri, A.; Milone, R.; Musumeci, O.; Pegoraro, E.; Perna, A.; Petrucci, A.; Pini, A.; Pochiero, F.; Pons, M. R.; Ricca, I.; Rossi, S.; Seri, M.; Stanzial, F.; Tinelli, F.; Toscano, A.; Valente, M.; Federico, A.; Rubegni, A.; Santorelli, F. M.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
2010 Iannicelli, M.; Brancati, F.; Mougou Zerelli, S.; Mazzotta, A.; Thomas, S.; Elkhartoufi, N.; Travaglini, L.; Gomes, C.; Ardissino, G. L.; Bertini, E.; Boltshauser, E.; Castorina, P.; D'Arrigo, S.; Fischetto, R.; Leroy, B.; Loget, P.; Bonniere, M.; Starck, L.; Tantau, J.; Gentilin, B.; Majore, S.; Swistun, D.; Flori, E.; Lalatta, F.; Pantaleoni, C.; Penzien, J.; Grammatico, Paola; Ali Pacha, L.; Tazir, M.; Zankl, A.; Leventer, R.; Grattan Smith, P.; Janecke, A.; D'Hooghe, M.; Sznajer, Y.; Van Coster, R.; Demerleir, L.; Dias, K.; Moco, C.; Moreira, A.; Ae Kim, C.; Maegawa, G.; Loncarevic, D.; Mejaski Bosnjak, V.; Petkovic, D.; Abdel Salam, G. M.; Abdel Aleem, A.; Zaki, M. S.; Marti, I.; Quijano Roy, S.; Sigaudy, S.; De Lonlay, P.; Romano, S.; Verloes, A.; Touraine, R.; Koenig, M.; Lagier Tourenne, C.; Messer, J.; Collignon, P.; Wolf, N.; Philippi, H.; Lemke, J.; Dacou Voutetakis, C.; Kitsiou Tzeli, S.; Pons, R.; Sztriha, L.; Halldorsson, S.; Johannsdottir, J.; Ludvigsson, P.; Phadke, S. R.; Udani, V.; Stuart, B.; Magee, A.; Lev, D.; Michelson, M.; Ben Zeev, B.; Di Giacomo, M.; Gentile, M.; Guanti, G.; D'Addato, O.; Papadia, F.; Spano, M.; Bernardi, F.; Seri, M.; Benedicenti, F.; Stanzial, F.; Borgatti, R.; Accorsi, P.; Battaglia, S.; Fazzi, E.; Giordano, L.; Izzi, C.; Pinelli, L.; Boccone, L.; Guanciali, P.; Romoli, R.; Bigoni, S.; Ferlini, A.; Andreucci, E.; Donati, M. A.; Genuardi, M.; Caridi, G.; Divizia, M. T.; Faravelli, F.; Ghiggeri, G.; Amorini, M.; Briguglio, M.; Briuglia, S.; Rigoli, L.; Salpietro, C.; Tortorella, G.; Adami, A.; Marra, G.; Riva, D.; Scelsa, B.; Spaccini, L.; Uziel, G.; Coppola, G.; Del Giudice, E.; Vitiello, G.; Laverda, A. M.; Ludwig, K.; Permunian, A.; Suppiej, A.; Macaluso, C.; Signorini, S.; Uggetti, C.; Battini, R.; Di Giacomo, M.; Priolo, M.; Cilio, M. R.; D'Amico, A.; Di Sabato, M. L.; Emma, F.; Leuzzi, Vincenzo; Parisi, Pasquale; Stringini, G.; Zanni, G.; Pollazzon, M.; Renieri, A.; Vascotto, M.; Silengo, M.; De Vescovi, R.; Greco, D.; Romano, C.; Cazzagon, M.; Simonati, A.; Al Tawari, A. A.; Bastaki, L.; Megarbane, A.; Matuleviciene, A.; Sabolic Avramovska, V.; Said, E.; De Jong, M. M.; Prescott, T.; Stromme, P.; Von Der Lippe, C.; Koul, R.; Rajab, A.; Azam, M.; Barbot, C.; Jocic Jakubi, B.; Gener Querol, B.; Martorell Sampol, L.; Rodriguez, B.; Pascual Castroviejo, I.; Strozzi, S.; Fluss, J.; Teber, S.; Topcu, M.; Anlar, B.; Comu, S.; Karaca, E.; Kayserili, H.; Yuksel, A.; Akgul, M.; Akcakus, M.; Al Gazali, L.; Nicholl, D.; Woods, C. G.; Bennett, C.; Hurst, J.; Sheridan, E.; Barnicoat, A.; Carr, L.; Hennekam, R.; Lees, M.; Mckay, F.; Yates, L.; Blair, E.; Bernes, S.; Sanchez, H.; Clark, A. E.; Marco E., De; Donahue, C.; Sherr, E.; Hahn, J.; Sanger, T. D.; Gallager, T. E.; Dobyns, W. B.; Daugherty, C.; Krishnamoorthy, K. S.; Sarco, D.; Walsh, C. A.; Mc Kanna, T.; Milisa, J.; Cjung, W. K.; De Vivo, D. C.; Raynes, H.; Schubert, R.; Seward, A.; Brooks, D. G.; Goldstein, A.; Caldwell, J.; Finsecke, E.; Maria, B. L.; Holden, K.; Cruse, R. P.; Swoboda, K. J.; Viskochil, D.; Dallapiccola, B.; Gleeson, J. G.; Attie Bitach, T.; Valente, E. M.
Parkinson disease genetics. A “continuum” from mendelian to multifactorial inheritance
2014 Petrucci, S.; Consoli, F.; Valente, E. M.
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
2019 Altieri, F.; D'Anzi, Angela; Martello, F.; Tardivo, S.; Spasari, I.; Ferrari, D.; Bernardini, L.; Lamorte, G.; Mazzoccoli, G.; Valente, E. M.; Vescovi, A. L.; Rosati, J.
Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier
2017 Picillo, Marina; Petrucci, Simona; Valente, Enza Maria; Pappatà, Sabina; Squame, Fiorenzo; Ginevrino, Monia; Pace, Leonardo; Barone, Paolo; Pellecchia, Maria Teresa
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs
2015 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
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease
2013 Stefani, A; Marzetti, F; Pierantozzi, M; Petrucci, S; Olivola, E; Galati, S; Bassi, Ms; Imbriani, P; Valente, Em; Pastore, Fs.
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
2022 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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders | 2007 | Brancati, F.; Barrano, G.; Silhavy, J. L.; Marsh, S. E.; Travaglini, L.; Bielas, S. L.; Amorini, M.; Zablocka, D.; Kayserili, H.; Al-Gazali, L.; Bertini, E.; Boltshauser, E.; D'Hooghe, M.; Fazzi, Eleonora; Fenerci, E. Y.; Hennekam, R. C. M.; Kiss, A.; Lees, M. M.; Marco, E.; Phadke, S. R.; Rigoli, L.; Romano, S.; Salpietro, C. D.; Sherr, E. H.; Signorini, S.; Stromme, P.; Stuart, B.; Sztriha, L.; Viskochil, D. H.; Yuksel, A.; Dallapiccola, B.; Valente, E. M.; Gleeson, J. G.; Grattan-Smith, P.; Leventer, R.; Janecke, A.; Van Coster, R.; Dias, K.; Moco, C.; MOREIRA DA SILVA, CLAUDIA ALEXANDRA; Chong, A. K.; Maegawa, G.; Abdel-Salam, G. M. H.; Abdel-Aleem, A.; Zaki, M. S.; Marti, I.; Quijano-Roy, S.; De Lonlay, P.; Verloes, A.; Touraine, R.; Koenig, M.; Lagier-Tourenne, C.; Messer, J.; Philippi, H.; Tzeli, S. K.; Halldorsson, S.; Johannsdottir, J.; Ludvigsson, P.; Magee, A.; Lev, D.; Michelson, M.; Ben-Zeev, B.; Fischetto, R.; Gentile, M.; Battaglia, S.; Giordano, L.; Boccone, L.; Ruggieri, M.; Bigoni, S.; Ferlini, A.; Donati, M. A.; Procopio, E.; Caridi, G.; Faravelli, F.; Ghiggeri, G.; Briuglia, S.; Tortorella, G.; D'Arrigo, S.; Pantaleoni, C.; Riva, D.; Uziel, G.; Lavercla, A. M.; Permunian, A.; Bova, S.; Battini, Roberta; Cilio, M. R.; DI SABATO, Manuela; Emma, F.; Leuzzi, V.; Parisi, P.; Simonati, A.; Al-Tawari, A. A.; Bastaki, L.; Aqeel, A.; De Jong, M. M.; Koul, R.; Rajab, A.; Azam, M.; Barbot, C.; Rodriguez, B.; Pascual-Castroviejo, I.; Comu, S.; Akcakus, M.; Nicholl, D.; Woods, C. G.; Bennett, C.; Hurst, J.; Walsh, C. A.; Bernes, S.; Sanchez, H.; Clark, A. E.; Donahue, C.; Hahn, J.; Sanger, T. D.; Gallager, T. E.; Dobyns, W. B.; Daugherty, C.; Krishnamoorthy, K. S.; Sarco, D.; Mckanna, T.; Milisa, J.; Chung, W. K.; De Vivo, D. C.; Raynes, H.; Schubert, R.; Seward, A.; Brooks, D. G.; Goldstein, A.; Caldwell, J.; Finsecke, E.; Maria, B. L.; Holden, K.; Cruse, R. P.; Swoboda, K. J. | |
| 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 | |
| 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 | |
| Genetic paradoxes in an italian family with PARK2 multiexon duplication | 2017 | Petrucci, Simona; Ferrazzano, Gina; Ginevrino, Monia; Tolve, Manuela; Berardelli, Isabella; Berardelli, Alfredo; Fabbrini, Giovanni; Valente, ENZA MARIA | |
| Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease. Evidence From COURAGE-PD Consortium | 2022 | 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 | |
| Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing | 2021 | D'Abrusco, F.; Arrigoni, F.; Serpieri, V.; Romaniello, R.; Caputi, C.; Manti, F.; Jocic-Jakubi, B.; Lucarelli, E.; Panzeri, E.; Bonaglia, M. C.; Chiapparini, L.; Pichiecchio, A.; Pinelli, L.; Righini, A.; Leuzzi, V.; Borgatti, R.; Valente, E. M. | |
| Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects | 2017 | De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, ENZA MARIA | |
| Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers | 2023 | 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 | |
| Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease | 2022 | 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 | |
| Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism | 2020 | 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 | |
| Next generation molecular diagnosis of hereditary spastic paraplegias: an italian cross-sectional study | 2018 | D'Amore, A.; Tessa, A.; Casali, C.; Dotti, M. T.; Filla, A.; Silvestri, G.; Antenora, A.; Astrea, G.; Barghigiani, M.; Battini, R.; Battisti, C.; Bruno, I.; Cereda, C.; Dato, C.; Di Iorio, G.; Donadio, V.; Felicori, M.; Fini, N.; Fiorillo, C.; Gallone, S.; Gemignani, F.; Gigli, G. L.; Graziano, C.; Guerrini, R.; Gurrieri, F.; Kariminejad, A.; Lieto, M.; Marques LourenCo, C.; Malandrini, A.; Mandich, P.; Marcotulli, C.; Mari, F.; Massacesi, L.; Melone, M. A. B.; Mignarri, A.; Milone, R.; Musumeci, O.; Pegoraro, E.; Perna, A.; Petrucci, A.; Pini, A.; Pochiero, F.; Pons, M. R.; Ricca, I.; Rossi, S.; Seri, M.; Stanzial, F.; Tinelli, F.; Toscano, A.; Valente, M.; Federico, A.; Rubegni, A.; Santorelli, F. M. | |
| Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies | 2010 | Iannicelli, M.; Brancati, F.; Mougou Zerelli, S.; Mazzotta, A.; Thomas, S.; Elkhartoufi, N.; Travaglini, L.; Gomes, C.; Ardissino, G. L.; Bertini, E.; Boltshauser, E.; Castorina, P.; D'Arrigo, S.; Fischetto, R.; Leroy, B.; Loget, P.; Bonniere, M.; Starck, L.; Tantau, J.; Gentilin, B.; Majore, S.; Swistun, D.; Flori, E.; Lalatta, F.; Pantaleoni, C.; Penzien, J.; Grammatico, Paola; Ali Pacha, L.; Tazir, M.; Zankl, A.; Leventer, R.; Grattan Smith, P.; Janecke, A.; D'Hooghe, M.; Sznajer, Y.; Van Coster, R.; Demerleir, L.; Dias, K.; Moco, C.; Moreira, A.; Ae Kim, C.; Maegawa, G.; Loncarevic, D.; Mejaski Bosnjak, V.; Petkovic, D.; Abdel Salam, G. M.; Abdel Aleem, A.; Zaki, M. S.; Marti, I.; Quijano Roy, S.; Sigaudy, S.; De Lonlay, P.; Romano, S.; Verloes, A.; Touraine, R.; Koenig, M.; Lagier Tourenne, C.; Messer, J.; Collignon, P.; Wolf, N.; Philippi, H.; Lemke, J.; Dacou Voutetakis, C.; Kitsiou Tzeli, S.; Pons, R.; Sztriha, L.; Halldorsson, S.; Johannsdottir, J.; Ludvigsson, P.; Phadke, S. R.; Udani, V.; Stuart, B.; Magee, A.; Lev, D.; Michelson, M.; Ben Zeev, B.; Di Giacomo, M.; Gentile, M.; Guanti, G.; D'Addato, O.; Papadia, F.; Spano, M.; Bernardi, F.; Seri, M.; Benedicenti, F.; Stanzial, F.; Borgatti, R.; Accorsi, P.; Battaglia, S.; Fazzi, E.; Giordano, L.; Izzi, C.; Pinelli, L.; Boccone, L.; Guanciali, P.; Romoli, R.; Bigoni, S.; Ferlini, A.; Andreucci, E.; Donati, M. A.; Genuardi, M.; Caridi, G.; Divizia, M. T.; Faravelli, F.; Ghiggeri, G.; Amorini, M.; Briguglio, M.; Briuglia, S.; Rigoli, L.; Salpietro, C.; Tortorella, G.; Adami, A.; Marra, G.; Riva, D.; Scelsa, B.; Spaccini, L.; Uziel, G.; Coppola, G.; Del Giudice, E.; Vitiello, G.; Laverda, A. M.; Ludwig, K.; Permunian, A.; Suppiej, A.; Macaluso, C.; Signorini, S.; Uggetti, C.; Battini, R.; Di Giacomo, M.; Priolo, M.; Cilio, M. R.; D'Amico, A.; Di Sabato, M. L.; Emma, F.; Leuzzi, Vincenzo; Parisi, Pasquale; Stringini, G.; Zanni, G.; Pollazzon, M.; Renieri, A.; Vascotto, M.; Silengo, M.; De Vescovi, R.; Greco, D.; Romano, C.; Cazzagon, M.; Simonati, A.; Al Tawari, A. A.; Bastaki, L.; Megarbane, A.; Matuleviciene, A.; Sabolic Avramovska, V.; Said, E.; De Jong, M. M.; Prescott, T.; Stromme, P.; Von Der Lippe, C.; Koul, R.; Rajab, A.; Azam, M.; Barbot, C.; Jocic Jakubi, B.; Gener Querol, B.; Martorell Sampol, L.; Rodriguez, B.; Pascual Castroviejo, I.; Strozzi, S.; Fluss, J.; Teber, S.; Topcu, M.; Anlar, B.; Comu, S.; Karaca, E.; Kayserili, H.; Yuksel, A.; Akgul, M.; Akcakus, M.; Al Gazali, L.; Nicholl, D.; Woods, C. G.; Bennett, C.; Hurst, J.; Sheridan, E.; Barnicoat, A.; Carr, L.; Hennekam, R.; Lees, M.; Mckay, F.; Yates, L.; Blair, E.; Bernes, S.; Sanchez, H.; Clark, A. E.; Marco E., De; Donahue, C.; Sherr, E.; Hahn, J.; Sanger, T. D.; Gallager, T. E.; Dobyns, W. B.; Daugherty, C.; Krishnamoorthy, K. S.; Sarco, D.; Walsh, C. A.; Mc Kanna, T.; Milisa, J.; Cjung, W. K.; De Vivo, D. C.; Raynes, H.; Schubert, R.; Seward, A.; Brooks, D. G.; Goldstein, A.; Caldwell, J.; Finsecke, E.; Maria, B. L.; Holden, K.; Cruse, R. P.; Swoboda, K. J.; Viskochil, D.; Dallapiccola, B.; Gleeson, J. G.; Attie Bitach, T.; Valente, E. M. | |
| Parkinson disease genetics. A “continuum” from mendelian to multifactorial inheritance | 2014 | Petrucci, S.; Consoli, F.; Valente, E. M. | |
| Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome | 2019 | Altieri, F.; D'Anzi, Angela; Martello, F.; Tardivo, S.; Spasari, I.; Ferrari, D.; Bernardini, L.; Lamorte, G.; Mazzoccoli, G.; Valente, E. M.; Vescovi, A. L.; Rosati, J. | |
| Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier | 2017 | Picillo, Marina; Petrucci, Simona; Valente, Enza Maria; Pappatà, Sabina; Squame, Fiorenzo; Ginevrino, Monia; Pace, Leonardo; Barone, Paolo; Pellecchia, Maria Teresa | |
| Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs | 2015 | 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 | |
| Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease | 2013 | Stefani, A; Marzetti, F; Pierantozzi, M; Petrucci, S; Olivola, E; Galati, S; Bassi, Ms; Imbriani, P; Valente, Em; Pastore, Fs. | |
| The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited | 2022 | 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 |