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

Tekijä Specchio, Nicola, Pietrafusa, Nicola, Trivisano, Marina
Julkaisussa Ther Clin Risk Manag (2020)

Epileptic Encephalopathy

Tekijä Specchio, Nicola, Trivisano, Marina, Scott, Rod C., Ferrie, Colin
Julkaistu 2012

Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly

Tekijä Re, Thomas J, Scarciolla, Laura, Takahashi, Emi, Specchio, Nicola, Bernardi, Bruno, Longo, Daniela
Julkaisussa J Neuroimaging (2015)

EPINETLAB: A Software for Seizure-Onset Zone Identification From Intracranial EEG Signal in Epilepsy

Tekijä Quitadamo, Lucia R., Foley, Elaine, Mai, Roberto, de Palma, Luca, Specchio, Nicola, Seri, Stefano
Julkaisussa Front Neuroinform (2018)

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurog...

Tekijä Compagnucci, Claudia, Petrini, Stefania, Higuraschi, Norimichi, Trivisano, Marina, Specchio, Nicola, Hirose, Shinichi, Bertini, Enrico, Terracciano, Alessandra
Julkaisussa Oncotarget (2015)

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

Tekijä Specchio, Nicola, Pietrafusa, Nicola, Trivisano, Marina, Moavero, Romina, De Palma, Luca, Ferretti, Alessandro, Vigevano, Federico, Curatolo, Paolo
Julkaisussa Front Neurol (2020)

Impact of COVID-19 pandemic on pediatric patients with epilepsy – The caregiver perspective

Tekijä Trivisano, Marina, Specchio, Nicola, Pietrafusa, Nicola, Calabrese, Costanza, Ferretti, Alessandro, Ricci, Riccardo, Renzetti, Tommaso, Raponi, Massimiliano, Vigevano, Federico
Julkaisussa Epilepsy Behav (2020)

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

Tekijä Specchio, Nicola, Pietrafusa, Nicola, Calabrese, Costanza, Trivisano, Marina, Pepi, Chiara, de Palma, Luca, Ferretti, Alessandro, Curatolo, Paolo, Vigevano, Federico
Julkaisussa Brain Sci (2020)

Fatal Status Epilepticus in Dravet Syndrome

Tekijä De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Julkaisussa Brain Sci (2020)

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...

Tekijä De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Julkaisussa Brain Sci (2021)

Vagus nerve stimulation in patients with Lennox‐Gastaut syndrome: A meta‐analysis

Tekijä Dibué, Maxine, Greco, Teresa, Spoor, Jochem K. H., Tahir, Zubair, Specchio, Nicola, Hänggi, Daniel, Steiger, Hans‐Jakob, Kamp, Marcel A.
Julkaisussa Acta Neurol Scand (2020)

Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome

Tekijä Brambilla, Isabella, Aibar, José Ángel, Hallet, Anne Sophie, Bibic, Irena, Cardenal‐Muñoz, Elena, Prpic, Igor, Darra, Francesca, Specchio, Nicola, Nabbout, Rima
Julkaisussa Epilepsia Open (2021)

Cannabidiol Treatment for Refractory Epilepsies in Pediatrics

Tekijä Raucci, Umberto, Pietrafusa, Nicola, Paolino, Maria Chiara, Di Nardo, Giovanni, Villa, Maria Pia, Pavone, Piero, Terrin, Gianluca, Specchio, Nicola, Striano, Pasquale, Parisi, Pasquale
Julkaisussa Front Pharmacol (2020)

Refractory Status Epilepticus in Genetic Epilepsy—Is Vagus Nerve Stimulation an Option?

Tekijä Specchio, Nicola, Ferretti, Alessandro, Pietrafusa, Nicola, Trivisano, Marina, Calabrese, Costanza, Carfì Pavia, Giusy, De Benedictis, Alessandro, Marras, Carlo Efisio, de Palma, Luca, Vigevano, Federico
Julkaisussa Front Neurol (2020)

Claustrum damage and refractory status epilepticus following febrile illness

Tekijä Meletti, Stefano, Slonkova, Jana, Mareckova, Iva, Monti, Giulia, Specchio, Nicola, Hon, Petr, Giovannini, Giada, Marcian, Vaclav, Chiari, Annalisa, Krupa, Petr, Pietrafusa, Nicola, Berankova, Dagmar, Bar, Michal
Julkaisussa Neurology (2015)

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Tekijä Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef
Julkaisussa Transl Psychiatry (2020)

An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic

Tekijä Kuchenbuch, Mathieu, D'Onofrio, Gianluca, Wirrell, Elaine, Jiang, Yuwu, Dupont, Sophie, Grinspan, Zachary M., Auvin, Stephane, Wilmshurst, Jo M., Arzimanoglou, Alexis, Cross, J. Helen, Specchio, Nicola, Nabbout, Rima
Julkaisussa Epilepsy Behav (2020)

Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians

Tekijä Wirrell, Elaine C., Grinspan, Zachary M., Knupp, Kelly G., Jiang, Yuwu, Hammeed, Biju, Mytinger, John R., Patel, Anup D., Nabbout, Rima, Specchio, Nicola, Cross, J. Helen, Shellhaas, Renée A.
Julkaisussa J Child Neurol (2020)

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

Tekijä Kim, Aryun, Grover, Anita, Hammon, Kevin, de Hart, Greg, Slasor, Peter, Cherukuri, Anu, Ajayi, Temitayo, Jacoby, David, Schulz, Angela, Specchio, Nicola, de Los Reyes, Emily, Gissen, Paul, Henshaw, Joshua W.
Julkaisussa Clin Transl Sci (2020)

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Tekijä Gissen, Paul, Specchio, Nicola, Olaye, Andrew, Jain, Mohit, Butt, Thomas, Ghosh, Wrik, Ruban-Fell, Benjamin, Griffiths, Annabel, Camp, Charlotte, Sisic, Zlatko, Schwering, Christoph, Wibbeler, Eva, Trivisano, Marina, Lee, Laura, Nickel, Miriam, Mortensen, Amanda, Schulz, Angela
Julkaisussa Orphanet J Rare Dis (2021)