Showing 1 - 20 results of 34 for search 'Renzo Guerrini', query time: 0.07s
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Neuronal migration disorders by Renzo Guerrini, Elena Parrini
Published 2010-05-01
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Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C by Claudia Capitini, Federica Feo, Anna Caciotti, Rodolfo Tonin, Matteo Lulli, Domenico Coviello, Renzo Guerrini, Martino Calamai, Amelia Morrone
Published 2022-08-01
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Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis by Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, Laura Masuelli, Barbara Tavazzi, Davide Mei, Flavia Giannotti, Renzo Guerrini, Vincenzo Leuzzi
Published 2019-12-01
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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report by Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio
Published 2021-01-01
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Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants by Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini
Published 2024-02-01
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Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis. by Elena Sieni, Carmen Barba, Marzia Mortilla, Sara Savelli, Laura Grisotto, Gianpiero Di Giacomo, Katiuscia Romano, Claudio Fonda, Annibale Biggeri, Renzo Guerrini, Maurizio Aricò
Published 2015-01-01
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Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector by Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone
Published 2023-12-01
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Somatic overgrowth predisposes to seizures in autism spectrum disorders. by Giulia Valvo, Sara Baldini, Francesca Brachini, Fabio Apicella, Angela Cosenza, Anna Rita Ferrari, Renzo Guerrini, Filippo Muratori, Maria Francesca Romano, Filippo M Santorelli, Raffaella Tancredi, Federico Sicca
Published 2013-01-01
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An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine... by Renzo Guerrini, Nicola Specchio, Ángel Aledo‐Serrano, Milka Pringsheim, Francesca Darra, Thomas Mayer, Antonio Gil‐Nagel, Tilman Polster, Sameer M. Zuberi, Amélie Lothe, Arnold Gammaitoni, Adam Strzelczyk
Published 2022-12-01
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Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy. by Carmen Barba, Domenico Montanaro, Laura Grisotto, Francesca Frijia, Simona Pellacani, Anna Cavalli, Susanna Rizzi, Matteo Lenge, Gayane Aghakhanyan, Valentina Sibilia, Flavio Giordano, Tiziana Pisano, Francesco Mari, Federico Melani, Andrea Cherubini, Annamaria Buccoliero, Maria Eugenia Caligiuri, Renzo Guerrini
Published 2020-01-01
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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. by Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel F Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein
Published 2017-11-01
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Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalize... by Anna-Maria Costa, Tommaso Lo Barco, Elisabetta Spezia, Valerio Conti, Laura Roli, Lorenza Marini, Sara Minghetti, Elisa Caramaschi, Laura Pietrangelo, Luca Pecoraro, Fabio D’Achille, Paola Accorsi, Tommaso Trenti, Federico Melani, Carla Marini, Renzo Guerrini, Francesca Darra, Patrizia Bergonzini, Giuseppe Biagini
Published 2022-03-01
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Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy by Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti, Giulia Baldassarri, Marina Trivisano, Simona Pellacani, Letizia Macconi, Daniela Longo, Maria Camilla Rossi Espagnet, Simona Cappelletti, PCDH19 Clinical Study Group, Ludovico D’Incerti, Carmen Barba, Nicola Specchio, Renzo Guerrini
Published 2024-01-01
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Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mut... by Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, Tiziana Bachetti, Paride Pelucchi, Valentina Melzi, Cinzia Arzilli, Marta Peruzzi, Rolland A. Reinbold, Silvia Cardani, Amelia Morrone, Renzo Guerrini, Ileana Zucchi, Stefania Corti, Isabella Ceccherini, Raffaele Piumelli, Niccolò Nassi, Simona Di Lascio, Diego Fornasari
Published 2022-05-01
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A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration by Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson
Published 2018-12-01
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Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum by Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Published 2021-08-01
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