Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Lucio, Parmeggiani"'
Autor:
Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 417-423 (2024)
Abstract Biallelic CNTNAP2 variants have been associated with Pitt‐Hopkins‐like syndrome. We describe six novel and one previously reported patients from six independent families and review the literature including 64 patients carrying biallelic
Externí odkaz:
https://doaj.org/article/7902d28e2bec4967aa4ee69bd3219bff
Autor:
Fiorenzo Lupi, Alex Staffler, Lucio Parmeggiani, Mathias Klemme, Robert Dalla Pozza, Josef Stuefer, Jun Thorsteinsdottir, Aurelia Peraud, Andreas W. Flemmer
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Intracranial penetration during attempted nasotracheal intubation is a potentially devastating complication, which should be carefully evaluated and the risk should be addressed in neonatal resuscitation trainings.
Externí odkaz:
https://doaj.org/article/392930cd56264617a767f588f2da4b04
Autor:
Paolo Bonanni, Francesca Ragona, Carlo Fusco, Antonio Gambardella, Francesca Felicia Operto, Lucio Parmeggiani, Stefano Sartori, Nicola Specchio
Publikováno v:
Expert Opinion on Pharmacotherapy. 24:655-663
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9000b774125de9e1b863ce490b23a6e4
https://doi.org/10.1080/14656566.2023.2187697
https://doi.org/10.1080/14656566.2023.2187697
Autor:
Antonella Riva, Antonietta Coppola, Carlo Di Bonaventura, Maurizio Elia, Edoardo Ferlazzo, Giuseppe Gobbi, Carla Marini, Stefano Meletti, Antonino Romeo, Katia Santoro, Alberto Verrotti, Giuseppe Capovilla, Pasquale Striano, Umberto Aguglia, Irene Bagnasco, Emanuele Bartolini, Domenica Battaglia, Francesca Beccaria, Vincenzo Belcastro, Pia Bernardo, Paolo Bonanni, Clementina Boniver, Alice Bonuccelli, Eleonora Briatore, Francesco Brigo, Elisabetta Cesaroni, Roberta Coa, Cinzia Costa, Alfredo D'Aniello, Valentina De Giorgis, Giancarlo Di Gennaro, Anna Rita Ferrari, Francesca Marchese, Sara Matricardi, Tullio Messana, Alessandra Morano, Francesca Felicia Operto, Alessandro Orsini, Lucio Parmeggiani, Cinzia Peruzzi, Dario Pruna, Monica Puligheddu, Patrizia Pulitano, Francesca Ragona, Andrea Romigi, Anna Rosati, Eleonora Rosati, Angelo Russo, Stefano Sartori, Carlotta Spagnoli, Maria Spanò, Antonio Trabacca, Serena Troisi, Maurizio Viri, Claudio Zucca
Publikováno v:
Seizure. 101:134-140
Although international guidelines exist, the clinical heterogeneity of Lennox-Gastaut syndrome (LGS) and the increasing availability of new and repurposed drugs (e.g., fenfluramine and cannabidiol) requires a practical guide to patient management in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aec71aae001c3fb75a3dbdc50bc6aae
https://doi.org/10.1016/j.seizure.2022.07.004
https://doi.org/10.1016/j.seizure.2022.07.004
Autor:
Renzo Guerrini, Francesco Miceli, Elena Cellini, Mario Nappi, Maurizio Taglialatela, Lucio Parmeggiani, Christina A. Gurnett, Maria Virginia Soldovieri, Davide Mei
Publikováno v:
Epilepsia. 63(1)
A wide phenotypic spectrum of neurological diseases is associated with KCNA1 (Kv1.1) variants. To investigate the molecular basis of such a heterogeneous clinical presentation and identify the possible correlation with in vitro phenotypes, we compare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cb1a8100336ec9841e42c216d761891
https://pubmed.ncbi.nlm.nih.gov/34778950
https://pubmed.ncbi.nlm.nih.gov/34778950
Autor:
Lydia Pescollderungg, Vanessa Cecchin, Federico Mercolini, Lucio Parmeggiani, Serena Pellegrin
Publikováno v:
Journal of Pediatric Neurology. 18:190-194
Acute or subacute ataxia in young children is rare and, in most cases, the diagnosis of the underlying etiology can be challenging. An extensive number of possible causes must be considered when approaching a child with ataxia. We report the case of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d87307fdadfc5f393efdba844abb14cc
https://doi.org/10.1055/s-0039-1688721
https://doi.org/10.1055/s-0039-1688721
Autor:
Davide Tonduti, Lucio Parmeggiani, Gaetano Cantalupo, Luigina Spaccini, Pierangelo Veggiotti, Daniela Zini, Cecilia Parazzini, Silvia Masnada, Eleonora Mura, Giacomo Talenti, Enrico Bertini, Maria Iascone, Chiara Aiello
Publikováno v:
Journal of human genetics. 66(10)
Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination". Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Mer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d474c7f2f8cd347a292e8f7ed5f5235
https://pubmed.ncbi.nlm.nih.gov/33785861
https://pubmed.ncbi.nlm.nih.gov/33785861
Autor:
Lucio Parmeggiani, Irene Toldo, Luigi Zuliani, Piera De Gaspari, Christian G. Bien, Margherita Nosadini, Benedetta Tascini, Stefano Sartori
Publikováno v:
Journal of neuroimmunology. 335
Leucine-rich glioma-inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) neurological autoimmunity in adults has been associated with various clinical syndromes involving central, peripheral and autonomic nervous system, whil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8815a1ce5e88fccdae9ab77a753eff
https://pubmed.ncbi.nlm.nih.gov/31352183
https://pubmed.ncbi.nlm.nih.gov/31352183
Autor:
Gianluca Casara, Francesco Benedicenti, Andrew A. Hicks, André Heimbach, Francisco S. Domingues, Peter Lackner, Anne Picard, Lucio Parmeggiani, Per Hoffmann, Claudia B. Volpato, Deborah Mascalzoni, Christine Schwienbacher, Franco Stanzial, Eva König, Peter P. Pramstaller, Chiara Cantaloni, Serena Pellegrin
Purpose Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early onset epilepsy, intellectual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f207dd0845127c31e2b6a3465469c9
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021
Autor:
Flavio Egger, Michela Salandin, Fiorenzo Lupi, Lucio Parmeggiani, Giorgio Radetti, Marco Primerano
Publikováno v:
Acta Paediatrica. 105:e577-e581
AIM Migraine affects approximately 10-20% of the general population, including children and adolescents, and an association between migraine and increased risks for cardiovascular disease and stroke have been reported in adult patients. This study ai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a25d2d679ebed1096482767bb8f2b1
https://doi.org/10.1111/apa.13611
https://doi.org/10.1111/apa.13611