Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Anna Rita, Ferrari"'
Autor:
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and
Externí odkaz:
https://doaj.org/article/ba10327d06cc4e8da9702f9d1003ec3b
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:
Carmen Salluce, Marco Cocciante, Marisa Gazzillo, Anna Rita Ferrari, Roberta Battini, Filippo Maria Santorelli, Emanuele Bartolini
Publikováno v:
Brain Sciences, Vol 14, Iss 7, p 670 (2024)
Dysautonomic disorders are an increasingly studied group of conditions, either as isolated diseases or associated with other neurological disorders. There is growing interest in understanding how dysautonomia affects people with epilepsy, who may rep
Externí odkaz:
https://doaj.org/article/f9e811f2364c44cf97586ef937996f7f
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:
Emanuele Bartolini, Stefania Della Vecchia, Tommaso Biagioni, Domenico Montanaro, Anna Rita Ferrari
Publikováno v:
Neuropediatrics.
DEPDC5 is an upstream repressor of the mechanistic target of rapamycin pathway via the GATOR-1 complex. Pathogenic variants causing loss of function typically result in familial focal epilepsy with variable foci. Neuroimaging may either be normal or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32703bb51dce72bbe932e42032e1ea5d
https://doi.org/10.1055/a-2067-5096
https://doi.org/10.1055/a-2067-5096
Autor:
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Ciof, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
Publikováno v:
Journal of Neurology. 270:2345-2346
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b43fcb1a2c772a095631a6c8ff05067
https://doi.org/10.1007/s00415-023-11589-2
https://doi.org/10.1007/s00415-023-11589-2
Autor:
Stefania Della Vecchia, Diego Lopergolo, Rosanna Trovato, Rosa Pasquariello, Anna Rita Ferrari, Emanuele Bartolini
Publikováno v:
Seizure. 104
Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR,Bartolini E.Seizure. 2023 Jan;104:32-37. doi: 10.1016/j.seizure.2022.11.014. Epub 2022 Nov 29.PMID:36476360 Background: : Cabezas syndrome is a rare X-linked disease caused by mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc0d55f63a10672615c7742c706d066
https://pubmed.ncbi.nlm.nih.gov/36476360
https://pubmed.ncbi.nlm.nih.gov/36476360
Publikováno v:
Journal of Clinical Medicine. 12:2580
Cerebral excitability and systemic metabolic balance are closely interconnected. Energy supply to neurons depends critically on glucose, whose fluctuations can promote immediate hyperexcitability resulting in acute symptomatic seizures. On the other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3855c4e57464c9ab9d3e85b7d0887d5d
https://doi.org/10.3390/jcm12072580
https://doi.org/10.3390/jcm12072580
Autor:
Andrea Salvati, Tommaso Biagioni, Anna Rita Ferrari, Diego Lopergolo, Paola Brovedani, Emanuele Bartolini
Salvati A, Biagioni T, Ferrari AR, Lopergolo D, Brovedani P,Bartolini E.Seizure. 2022 Jul;99:127-130. doi: 10.1016/j.seizure.2022.05.020. Epub 2022 May 26. Purpose:De novo truncating mutations of AHDC1 gene cause Xia-Gibbs Syndrome (XGS), characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c68acf9039184af3ffda6e0207b4ff34
Publikováno v:
Epilepsybehavior : EB. 132
PMID:35636351 DOI:10.1016/j.yebeh.2022.108739 The incidence of epilepsy is highest at the extreme age ranges: childhood and elderly age. The most common syndromes in these demographics - self-limited epilepsies of childhood and idiopathic generalized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce845f3cfd8b428a45ddff611c0e2150
https://pubmed.ncbi.nlm.nih.gov/35636351
https://pubmed.ncbi.nlm.nih.gov/35636351