Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Patrizia RIGUZZI"'
Autor:
Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract Background Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotecti
Externí odkaz:
https://doaj.org/article/8038875c56df41ce80d5cee5e149995b
Autor:
Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos, Roberto Michelucci, Carlo Alberto Tassinari, Patrizia Riguzzi, Carlo Nobile, Pascual Sanz, José M Serratosa, Pilar Gómez-Garre
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21294 (2011)
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that
Externí odkaz:
https://doaj.org/article/decbd37294894b3a9ad223c460a37b7c
Autor:
Lorenzo Muccioli, Corrado Zenesini, Lisa Taruffi, Laura Licchetta, Barbara Mostacci, Lidia Di Vito, Elena Pasini, Lilia Volpi, Patrizia Riguzzi, Lorenzo Ferri, Flavia Baccari, Francesco Nonino, Roberto Michelucci, Paolo Tinuper, Luca Vignatelli, Francesca Bisulli
Publikováno v:
Epilepsia. 63:2279-2289
Objective: Data on COVID-19 outcomes in persons with epilepsy (PWE) are scarce and inconclusive. We aimed to study the risk of hospitalization and death for COVID-19 in a large cohort of PWE from March 1, 2020 to October 31, 2021. Methods: The histor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4570e6da56218f576a4777592d80451d
https://doi.org/10.1111/epi.17356
https://doi.org/10.1111/epi.17356
Publikováno v:
The American Journal of Medicine. 135:e11-e13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::295733cb773ddf1fced0b7a4cf9cc911
https://doi.org/10.1016/j.amjmed.2021.08.016
https://doi.org/10.1016/j.amjmed.2021.08.016
Autor:
Laura Licchetta, Elena Freri, Paolo Tinuper, Francesca Bisulli, Barbara Mostacci, Tommaso Martino, Roberto Michelucci, Giuseppe d'Orsi, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Laura Canafoglia, Lorenzo Muccioli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotective effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98536dd9c697ae58856c12edcd7cc552
http://link.springer.com/article/10.1186/s13023-019-1132-3
http://link.springer.com/article/10.1186/s13023-019-1132-3
Autor:
Maria Tappatà, Carlo Alberto Tassinari, Elena Pasini, Anna Federica Marliani, Lilia Volpi, Patrizia Riguzzi, Carlo Nobile, Emanuela Dazzo, Raffaella Minardi, Francesca Bisulli, Roberto Michelucci
Publikováno v:
Epileptic Disorders. 22:443-448
Aims. Reelin mutations are responsible for a minority of families with autosomal dominant lateral temporal lobe epilepsy. Here, we report a novel nuclear family with distinct clinical and neuroradiological findings. Methods. We studied the proband an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c19cc76bd2a91f86498ba84410708ba
https://doi.org/10.1684/epd.2020.1176
https://doi.org/10.1684/epd.2020.1176
Autor:
Edoardo Ferlazzo, Laura Licchetta, Alessandro Filla, Samuel F. Berkovic, Roberto Michelucci, Paolo Tinuper, Martina Fanella, Silvana Franceschetti, Anna Teresa Giallonardo, Carolina Courage, Federico Zara, Antonio Gambardella, Teresa Anna Cantisani, Patrizia Riguzzi, Barbara Castellotti, Cinzia Gellera, Pasquale Striano, Carlo Di Bonaventura, Tiziana Granata, Melanie Bahlo, Laura Canafoglia, Karen Oliver, Angela La Neve, Anna-Elina Lehesjoki, Adriana Magaudda
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and ObjectivesTo assess the current diagnostic yield of genetic testing for the progressive myoclonus epilepsies (PMEs) of an Italian series described in 2014 where Unverricht-Lundborg and Lafora diseases accounted for ∼50% of the cohort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9531c8a22904cfbaddb779c16def951
http://europepmc.org/articles/PMC8589262
http://europepmc.org/articles/PMC8589262
Autor:
Rocco Liguori, Veria Vacchiano, Lilia Volpi, Patrizia Riguzzi, Patrizia Avoni, Maria Tappatà, S. Zaccaroni, Pietro Cortelli, Roberto Michelucci, Giovanni Rizzo, Luca Guerra
Publikováno v:
Neurological Sciences
Introduction: Neurological manifestations can occur during coronavirus disease 19 (COVID-19). Several pathogenic mechanisms have been hypothesized, without conclusive results. In this study, we evaluated the most frequent neurological symptoms in a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::765205c4ef1a702baaf4e25c64c37b95
https://doi.org/10.1007/s10072-020-04525-z
https://doi.org/10.1007/s10072-020-04525-z
Autor:
Elena Pasini, Laura Mirandola, Paolo Tinuper, L. Di Vito, Marcella Malagoli, Laura Tassi, Stefano Meletti, Francesca Bisulli, Roberto Michelucci, Anna Elisabetta Vaudano, Giuliana Gessaroli, Lilia Volpi, Francesco Cardinale, Giulia Monti, Giada Giovannini, Louis Lemieux, Patrizia Riguzzi, Francesca Talami, Giacomo Pavesi
Simultaneous EEG-fMRI can contribute to identify the epileptogenic zone (EZ) in focal epilepsies. However, fMRI maps related to Interictal Epileptiform Discharges (IED) commonly show multiple regions of signal change rather than focal ones. Dynamic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4459e045bd47eecb179a2ac5e04a2574
http://hdl.handle.net/11585/854187
http://hdl.handle.net/11585/854187
Publikováno v:
Journal of the Neurological Sciences. 434:120183
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a939d47da23d7ad52b4096a7c8a18c9d
https://doi.org/10.1016/j.jns.2022.120183
https://doi.org/10.1016/j.jns.2022.120183