PARRINI, ELENA
PARRINI, ELENA
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene
2024 Parrini E.; Balestrini S.; Rutigliano D.; Ricci M.; Mei D.; Guerrini R.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
2023 Nicola Specchio , Marina Trivisano , Matteo Lenge , Alessandro Ferretti , Davide Mei , Elena Parrini , Antonio Napolitano , Camilla Rossi-Espagnet , Giacomo Talenti , Daniela Longo , Jacopo Proietti , Francesca Ragona , Elena Freri , Roberta Solazzi , Tiziana Granata , Francesca Darra , Bernardo Dalla Bernardina , Federico Vigevano , Renzo Guerrini
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene
2021 Brunetti, Sara; Malerba, Laura; Giordano, Lucio; Parrini, Elena; Guerrini, Renzo; Palumbo, Giovanni; Parazzini, Cecilia; Bestetti, Ilaria; Accorsi, Patrizia
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations
2017 Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo
Deciphering the premature mortality in PIGA-CDG - An untold story
2021 Allan Bayat , Marius Kløvgaard , Katrine M Johannesen , Tahsin Stefan Barakat , Anneke Kievit , Martino Montomoli , Elena Parrini , Nicola Pietrafusa , Jurgen Schelhaas , Marjon van Slegtenhorst , Kazushi Miya , Renzo Guerrini , Lisbeth Tranebjærg , Zeynep Tümer , Guido Rubboli , Rikke S Møller
Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy
2017 Syrbe, S; L, Harms F.; Parrini, E; Montomoli, M; Mu Tze, U; L, Heldig K.; Polster, T; Albrecht, B; Bernbeck, U; Van Binsbergen, E; Biskup, S; Burglen, L; Denecke, J; Heron, B; Heyne H, O.; F, Hoffman G.; Hornemann, F; Matsushige, T; Matsuura, R; Kato, M; C, Korenke G.; Kuechler, A; La mmer, C; Merkenschager, A; Mignot, C; Ruf, S; Nakashima, M; Saitsu, H; Stamberger, H; Pisano, T; Tohyama, J; Weckhuysen, S; Werckx, W; Wickert, J; Mari, F; E, Verbeek N.; S, Moller R.; Koeleman, B; Matsumoto, N; B, Dobyns W.; Battaglia, D; R, Lemke J.; Kutsche, K; Guerrini, R.
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017 Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba , Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group;Guerrini R
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome
2021 Roberta Solazzi , Elena Fiorini , Elena Parrini , Renzo Guerrini , Bernardo Dalla Bernardina , Nardo Nardocci , Gaetano Cantalupo
GNAO1 encephalopathy : broadening the phenotype and evaluating treatment and outcome.
2017 Danti, Fr; Galosi, S; Romani, M; Montomoli, M; Carss, Kj; Raymond, Fl; Parrini, E; Bianchini, C; Mcshane, T; Dale, Rc; Mohammad, Ss; Shah, U; Mahant, N; Ng, J; Mctague, A; Samanta, R; Vadiamani, G; Valente, Em; Leuzzi, V; Kurian, Ma; Guerrini, R.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum
2023 Serena Galosi , Maria Novelli , Martina Di Rocco , Elisabetta Flex , Elena Messina , Luca Pollini , Elena Parrini , Francesco Pisani , Renzo Guerrini , Vincenzo Leuzzi , Simone Martinelli
Lissencephaly : Expanded imaging and clinical classification
2017 Di Donato, N; Chiara, S; Mirzaa, Gm; Aldinger, K; Parrini, E; Olds, C; Barkovich, Aj; Guerrini, R; Dobyns, Wb
Migrating Focal Seizures and Myoclonic Status in ARV1- Related Encephalopathy
2021 Darra, Francesca; Lo Barco, Tommaso; Opri, Roberta; Parrini, Elena; Bianchini, Claudia; Fiorini, Elena; Simonati, Alessandro; Dalla Bernardina, Bernardo; Cantalupo, Gaetano; Guerrini, Renzo
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
2022 Nataliya Di Donato , Renzo Guerrini , Charles J Billington , A James Barkovich , Philine Dinkel , Elena Freri , Michael Heide , Elliot S Gershon , Tracy S Gertler , Robert J Hopkin , Suma Jacob , Sarah K Keedy , Daniz Kooshavar , Paul J Lockhart , Dietmar R Lohmann , Iman G Mahmoud , Elena Parrini , Evelin Schrock , Giulia Severi , Andrew E Timms , Richard I Webster , Mary J H Willis , Maha S Zaki , Joseph G Gleeson , Richard J Leventer , William B Dobyns
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
2024 Gasparini S.; Balestrini S.; Saccaro L.F.; Bacci G.; Panichella G.; Montomoli M.; Cantalupo G.; Bigoni S.; Mancano G.; Pellacani S.; Leuzzi V.; Volpi N.; Mari F.; Melani F.; Cavallin M.; Pisano T.; Porcedda G.; Vaglio A.; Mei D.; Barba C.; Parrini E.; Guerrini R.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2021 Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
2021 Contro, Gianluca; Micalizzi, Alessia; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Rosato, Simonetta; Pollazzon, Marzia; Terracciano, Alessandra; Napoli, Manuela; Rizzi, Susanna; Salerno, Grazia Gabriella; Radio, Francesca Clementina; Niceta, Marcello; Parrini, Elena; Fusco, Carlo; Gargano, Giancarlo; Guerrini, Renzo; Tartaglia, Marco; Novelli, Antonio; Zuffardi, Orsetta; Garavelli, Livia
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: Rescue by antioxidants in a disease model
2019 Luthy K.; Mei D.; Fischer B.; De Fusco M.; Swerts J.; Paesmans J.; Parrini E.; Lubarr N.; Meijer I.A.; Mackenzie K.M.; Lee W.-T.; Cittaro D.; Aridon P.; Schoovaerts N.; Versees W.; Verstreken P.; Casari G.; Guerrini R.
The spectrum of brain malformations and disruptions in twins
2021 Park, Kaylee B.; Chapman, Teresa; Aldinger, Kimberly A.; Mirzaa, Ghayda M.; Zeiger, Jordan; Beck, Anita; Glass, Ian A.; Hevner, Robert F.; Jansen, Anna C.; Marshall, Desiree A.; Oegema, Renske; Parrini, Elena; Saneto, Russell P.; Curry, Cynthia J.; Hall, Judith G.; Guerrini, Renzo; Leventer, Richard J.; Dobyns, William B.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene | 2024 | Parrini E.; Balestrini S.; Rutigliano D.; Ricci M.; Mei D.; Guerrini R. | |
| CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome | 2023 | Nicola Specchio , Marina Trivisano , Matteo Lenge , Alessandro Ferretti , Davide Mei , Elena Parrini , Antonio Napolitano , Camilla Rossi-Espagnet , Giacomo Talenti , Daniela Longo , Jacopo Proietti , Francesca Ragona , Elena Freri , Roberta Solazzi , Tiziana Granata , Francesca Darra , Bernardo Dalla Bernardina , Federico Vigevano , Renzo Guerrini | |
| Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene | 2021 | Brunetti, Sara; Malerba, Laura; Giordano, Lucio; Parrini, Elena; Guerrini, Renzo; Palumbo, Giovanni; Parazzini, Cecilia; Bestetti, Ilaria; Accorsi, Patrizia | |
| Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations | 2017 | Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo | |
| Deciphering the premature mortality in PIGA-CDG - An untold story | 2021 | Allan Bayat , Marius Kløvgaard , Katrine M Johannesen , Tahsin Stefan Barakat , Anneke Kievit , Martino Montomoli , Elena Parrini , Nicola Pietrafusa , Jurgen Schelhaas , Marjon van Slegtenhorst , Kazushi Miya , Renzo Guerrini , Lisbeth Tranebjærg , Zeynep Tümer , Guido Rubboli , Rikke S Møller | |
| Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy | 2017 | Syrbe, S; L, Harms F.; Parrini, E; Montomoli, M; Mu Tze, U; L, Heldig K.; Polster, T; Albrecht, B; Bernbeck, U; Van Binsbergen, E; Biskup, S; Burglen, L; Denecke, J; Heron, B; Heyne H, O.; F, Hoffman G.; Hornemann, F; Matsushige, T; Matsuura, R; Kato, M; C, Korenke G.; Kuechler, A; La mmer, C; Merkenschager, A; Mignot, C; Ruf, S; Nakashima, M; Saitsu, H; Stamberger, H; Pisano, T; Tohyama, J; Weckhuysen, S; Werckx, W; Wickert, J; Mari, F; E, Verbeek N.; S, Moller R.; Koeleman, B; Matsumoto, N; B, Dobyns W.; Battaglia, D; R, Lemke J.; Kutsche, K; Guerrini, R. | |
| Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes | 2017 | Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba , Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group;Guerrini R | |
| Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome | 2021 | Roberta Solazzi , Elena Fiorini , Elena Parrini , Renzo Guerrini , Bernardo Dalla Bernardina , Nardo Nardocci , Gaetano Cantalupo | |
| GNAO1 encephalopathy : broadening the phenotype and evaluating treatment and outcome. | 2017 | Danti, Fr; Galosi, S; Romani, M; Montomoli, M; Carss, Kj; Raymond, Fl; Parrini, E; Bianchini, C; Mcshane, T; Dale, Rc; Mohammad, Ss; Shah, U; Mahant, N; Ng, J; Mctague, A; Samanta, R; Vadiamani, G; Valente, Em; Leuzzi, V; Kurian, Ma; Guerrini, R. | |
| GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum | 2023 | Serena Galosi , Maria Novelli , Martina Di Rocco , Elisabetta Flex , Elena Messina , Luca Pollini , Elena Parrini , Francesco Pisani , Renzo Guerrini , Vincenzo Leuzzi , Simone Martinelli | |
| Lissencephaly : Expanded imaging and clinical classification | 2017 | Di Donato, N; Chiara, S; Mirzaa, Gm; Aldinger, K; Parrini, E; Olds, C; Barkovich, Aj; Guerrini, R; Dobyns, Wb | |
| Migrating Focal Seizures and Myoclonic Status in ARV1- Related Encephalopathy | 2021 | Darra, Francesca; Lo Barco, Tommaso; Opri, Roberta; Parrini, Elena; Bianchini, Claudia; Fiorini, Elena; Simonati, Alessandro; Dalla Bernardina, Bernardo; Cantalupo, Gaetano; Guerrini, Renzo | |
| Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders | 2022 | Nataliya Di Donato , Renzo Guerrini , Charles J Billington , A James Barkovich , Philine Dinkel , Elena Freri , Michael Heide , Elliot S Gershon , Tracy S Gertler , Robert J Hopkin , Suma Jacob , Sarah K Keedy , Daniz Kooshavar , Paul J Lockhart , Dietmar R Lohmann , Iman G Mahmoud , Elena Parrini , Evelin Schrock , Giulia Severi , Andrew E Timms , Richard I Webster , Mary J H Willis , Maha S Zaki , Joseph G Gleeson , Richard J Leventer , William B Dobyns | |
| Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol | 2024 | Gasparini S.; Balestrini S.; Saccaro L.F.; Bacci G.; Panichella G.; Montomoli M.; Cantalupo G.; Bigoni S.; Mancano G.; Pellacani S.; Leuzzi V.; Volpi N.; Mari F.; Melani F.; Cavallin M.; Pisano T.; Porcedda G.; Vaglio A.; Mei D.; Barba C.; Parrini E.; Guerrini R. | |
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns | 2021 | Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. | |
| Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum | 2021 | Contro, Gianluca; Micalizzi, Alessia; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Rosato, Simonetta; Pollazzon, Marzia; Terracciano, Alessandra; Napoli, Manuela; Rizzi, Susanna; Salerno, Grazia Gabriella; Radio, Francesca Clementina; Niceta, Marcello; Parrini, Elena; Fusco, Carlo; Gargano, Giancarlo; Guerrini, Renzo; Tartaglia, Marco; Novelli, Antonio; Zuffardi, Orsetta; Garavelli, Livia | |
| TBC1D24-TLDc-related epilepsy exercise-induced dystonia: Rescue by antioxidants in a disease model | 2019 | Luthy K.; Mei D.; Fischer B.; De Fusco M.; Swerts J.; Paesmans J.; Parrini E.; Lubarr N.; Meijer I.A.; Mackenzie K.M.; Lee W.-T.; Cittaro D.; Aridon P.; Schoovaerts N.; Versees W.; Verstreken P.; Casari G.; Guerrini R. | |
| The spectrum of brain malformations and disruptions in twins | 2021 | Park, Kaylee B.; Chapman, Teresa; Aldinger, Kimberly A.; Mirzaa, Ghayda M.; Zeiger, Jordan; Beck, Anita; Glass, Ian A.; Hevner, Robert F.; Jansen, Anna C.; Marshall, Desiree A.; Oegema, Renske; Parrini, Elena; Saneto, Russell P.; Curry, Cynthia J.; Hall, Judith G.; Guerrini, Renzo; Leventer, Richard J.; Dobyns, William B. |