PARRINI, ELENA

PARRINI, ELENA  

Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)  

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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.