Search the collection

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 21
ArticlesPeer ReviewedFull Text
Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Drav...
Author / Creator:De Liso, Paola ; Pironi, Virginia ; Mastrangelo, Massimo ; Battaglia, Domenica ; Craiu, Dana ; Trivisano, Marina ; Specchio, Nicola ; Nabbout, Rima ; Vigevano, Federico
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2021-06, Vol.11 (6), p.811
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 22
ArticlesPeer ReviewedFull Text
Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy
Author / Creator:Specchio, Nicola ; Pietrafusa, Nicola ; Trivisano, Marina
Publisher:New Zealand: Taylor & Francis Ltd
Journal title:Therapeutics and clinical risk management, 2020-01, Vol.16, p.213-222
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 23
ArticlesPeer ReviewedFull Text
Epileptic Encephalopathy
Author / Creator:Specchio, Nicola ; Trivisano, Marina ; Scott, Rod C. ; Ferrie, Colin
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:Epilepsy Research and Treatment, 2012-01, Vol.2012 (2012), p.211-212
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 24
ArticlesPeer ReviewedFull Text
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy
Author / Creator:Specchio, Nicola ; Ferretti, Alessandro ; Trivisano, Marina ; Pietrafusa, Nicola ; Pepi, Chiara ; Calabrese, Costanza ; Livadiotti, Susanna ; Simonetti, Alessandra ; Rossi, Paolo ; Curatolo, Paolo ; Vigevano, Federico
Publisher:Cham: Springer International Publishing
Journal title:Drugs (New York, N.Y.), 2021-01, Vol.81 (1), p.101-123
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 25
ArticlesPeer ReviewedFull Text
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
Author / Creator:Schulz, Angela ; Specchio, Nicola ; de los Reyes, Emily ; Gissen, Paul ; Nickel, Miriam ; Trivisano, Marina ; Aylward, Shawn C ; Chakrapani, Anupam ; Schwering, Christoph ; Wibbeler, Eva ; Westermann, Lena Marie ; Ballon, Douglas J ; Dyke, Jonathan P ; Cherukuri, Anu ; Bondade, Shailesh ; Slasor, Peter ; Cohen Pfeffer, Jessica
Publisher:England: Elsevier Limited
Journal title:Lancet neurology, 2024-01, Vol.23 (1), p.60-70
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 26
ArticlesPeer ReviewedFull Text
Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids
Author / Creator:Borghi, Rossella ; Magliocca, Valentina ; Trivisano, Marina ; Specchio, Nicola ; Tartaglia, Marco ; Bertini, Enrico ; Compagnucci, Claudia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-03, Vol.23 (7), p.3506
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 27
ArticlesPeer ReviewedFull Text
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
Author / Creator:Orlando, Valeria ; Di Tommaso, Silvia ; Alesi, Viola ; Loddo, Sara ; Genovese, Silvia ; Catino, Giorgia ; Martucci, Licia ; Roberti, Maria Cristina ; Trivisano, Marina ; Dentici, Maria Lisa ; Specchio, Nicola ; Dallapiccola, Bruno ; Ferretti, Alessandro ; Novelli, Antonio
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-11, Vol.23 (21), p.12900
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 28
ArticlesPeer ReviewedFull Text
Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy
Author / Creator:Pietrafusa, Nicola ; Ferretti, Alessandro ; Trivisano, Marina ; de Palma, Luca ; Calabrese, Costanza ; Carfì Pavia, Giusy ; Tondo, Ilaria ; Cappelletti, Simona ; Vigevano, Federico ; Specchio, Nicola
Publisher:Cham: Springer International Publishing
Journal title:Paediatric drugs, 2019-08, Vol.21 (4), p.283-290
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 29
ArticlesPeer ReviewedFull Text
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Author / Creator:Mei, Davide ; Balestrini, Simona ; Parrini, Elena ; Gambardella, Antonio ; Annesi, Grazia ; De Giorgis, Valentina ; Gana, Simone ; Bassi, Maria Teresa ; Zucca, Claudio ; Elia, Maurizio ; Vetri, Luigi ; Castellotti, Barbara ; Ragona, Francesca ; Mastrangelo, Mario ; Pisani, Francesco ; d'Orsi, Giuseppe ; Carella, Massimo ; Pruna, Dario ; Giglio, Sabrina ; Marini, Carla ; Cesaroni, Elisabetta ; Riva, Antonella ; Scala, Marcello ; Licchetta, Laura ; Minardi, Raffaella ; Contaldo, Ilaria ; Gambardella, Maria Luigia ; Cossu, Alberto ; Proietti, Jacopo ; Cantalupo, Gaetano ; Trivisano, Marina ; De Dominicis, Angela ; Specchio, Nicola ; Tassi, Laura ; Guerrini, Renzo ; Cellini, Elena ; Cetica, Valentina ; De Vita, Dalila ; Mandorlini, Claudia ; Pucatti, Daniela ; Rutigliano, Domenico ; Virdò, Simona ; Fortunato, Francesco ; Gagliardi, Monica ; Talarico, Mariagrazia ; Valente, Enza Maria ; Tartara, Elena ; Galimberti, Carlo Andrea ; Pasca, Ludovica ; Mambretti, Fabiana ; Bonanni, Paolo ; De Rinaldis, Marta ; Calì, Francesco ; Vinci, Mirella ; Musumeci, Antonino ; Messina, Giuliana ; Gellera, Cinzia ; Granata, Tiziana ; Freri, Elena ; Solazzi, Roberta ; Canafoglia, Laura ; Ricciardi, Giacomina ; Bove, Rossella ; Palumbo, Orazio ; Palumbo, Pietro ; Benvenuto, Mario ; Adragna, Carola ; Cossu, Silvia ; Siliquini, Sabrina ; Cappanera, Silvia ; Iacomino, Michele ; Madia, Francesca ; Striano, Pasquale ; Zara, Federico ; Bisulli, Francesca ; Muccioli, Lorenzo ; Pippucci, Tommaso ; Battaglia, Domenica Immacolata ; Quintiliani, Michela ; Perulli, Marco ; Veredice, Chiara ; Darra, Francesca ; Ghobert, Anna Ludovica ; Fiorini, Elena ; Fontana, Elena ; Terracciano, Alessandra
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2025-01, Vol.62 (1), p.25-31
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 30
ArticlesPeer ReviewedFull Text
Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with IKCNT1/I Genetic Variants
Author / Creator:Ferretti, Alessandro ; Simeoli, Raffaele ; Cairoli, Sara ; Pietrafusa, Nicola ; Trivisano, Marina ; Dionisi Vici, Carlo ; Specchio, Nicola ; Goffredo, Bianca Maria
Publisher:MDPI AG
Journal title:Pharmaceutics, 2022-10, Vol.14 (10)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 31
ArticlesPeer ReviewedFull Text
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Author / Creator:Battaglia, Domenica I. ; Gambardella, Maria Luigia ; Veltri, Stefania ; Contaldo, Ilaria ; Chillemi, Giovanni ; Veredice, Chiara ; Quintiliani, Michela ; Leoni, Chiara ; Onesimo, Roberta ; Verdolotti, Tommaso ; Radio, Francesca Clementina ; Martinelli, Diego ; Trivisano, Marina ; Specchio, Nicola ; Dravet, Charlotte ; Tartaglia, Marco ; Zampino, Giuseppe
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (9), p.1316
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 32
ArticlesPeer ReviewedFull Text
TELEmedicine for EPIlepsy Care (TELE-EPIC): protocol of a randomised, open controlled non-inferiority clinical trial
Author / Creator:Licchetta, Laura ; Trivisano, Marina ; Baldin, Elisa ; Mohamed, Susan ; Raschi, Emanuel ; Mostacci, Barbara ; Zenesini, Corrado ; Contin, Manuela ; Vigevano, Federico ; Bisulli, Francesca ; Tinuper, Paolo ; Vignatelli, Luca
Publisher:London: British Medical Journal Publishing Group
Journal title:BMJ open, 2021-12, Vol.11 (12), p.e053980
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 33
ArticlesPeer ReviewedFull Text
Bilateral putaminal necrosis and bronopol toxicity
Author / Creator:Trivisano, Marina ; Carapelle, Elena ; Martino, Tommaso ; Specchio, Luigi Maria
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2015-02, Vol.2015, p.bcr2014206405
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 34
ArticlesPeer ReviewedFull Text
Progressive myoclonus epilepsy in Down syndrome patients with dementia
Author / Creator:d’Orsi, Giuseppe ; Specchio, Luigi M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2014-08, Vol.261 (8), p.1584-1597
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 21 to 40 of 24 results

Export record to excel

Export this record

Export record to excel

Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Drav...

Export this record

Export record to excel

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

Export this record

Export record to excel

Epileptic Encephalopathy

Export this record

Export record to excel

Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy

Export this record

Export record to excel

Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

Export this record

Export record to excel

Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids

Export this record

Export record to excel

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy

Export this record

Export record to excel

Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy

Export this record

Export record to excel

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy

Export this record

Export record to excel

Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with IKCNT1/I Genetic Variants

Export this record

Export record to excel

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

Export this record

Export record to excel

TELEmedicine for EPIlepsy Care (TELE-EPIC): protocol of a randomised, open controlled non-inferiority clinical trial

Export this record

Export record to excel

Bilateral putaminal necrosis and bronopol toxicity

Export this record

Export record to excel

Progressive myoclonus epilepsy in Down syndrome patients with dementia

Refine your search