Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Vidmer Scaioli"'
Autor:
Chiara Benzoni, Marco Moscatelli, Laura Farina, Stefania Magri, Claudia Ciano, Vidmer Scaioli, Sara Alverà, Gabriella Cammarata, Stefania Bianchi-Marzoli, Massimo Castellani, Felicia Margherita Zito, Giorgio Marotta, Sylvie Piacentini, Alberto Villacara, Renato Mantegazza, Cinzia Gellera, João Durães, Ana Gouveia, Anabela Matos, Maria do Carmo Macário, Davide Pareyson, Franco Taroni, Daniela Di Bella, Ettore Salsano
Publikováno v:
Journal of Neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d6818430db5e46592578f0daa4da52b
https://doi.org/10.1007/s00415-023-11762-7
https://doi.org/10.1007/s00415-023-11762-7
Autor:
Elena Freri, Francesca Ragona, Roberta Solazzi, Vidmer Scaioli, Laura Canafoglia, Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Sara Gabbiadini, Jacopo C. DiFrancesco
Publikováno v:
Epileptic Disorders. 22:233-236
We report the atypical presentation of Lafora disease in a Senegalese girl carrying the homozygous variant, c.560A>C, in the NHLRC1 gene. At 13 years, the patient developed myoclonic and visual seizures, progressive psychomotor slowing, and cognitive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deffc88cb8fdc106a1459c0ac9f42c9a
https://doi.org/10.1684/epd.2020.1150
https://doi.org/10.1684/epd.2020.1150
Autor:
Silvana Franceschetti, Tiziana Granata, Vidmer Scaioli, Jacopo C. DiFrancesco, Roberta Solazzi, Francesca Ragona, Laura Canafoglia, Barbara Castellotti, Nardo Nardocci, Cinzia Gellera, Elena Freri, Giuliana Messina, Ferruccio Panzica
Publikováno v:
Seizure. 82:56-58
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7598f4f7ede0c4420e3e22f5809bf5
https://doi.org/10.1016/j.seizure.2020.09.011
https://doi.org/10.1016/j.seizure.2020.09.011
Autor:
Tiziana Granata, Barbara Castellotti, Vidmer Scaioli, Cinzia Gellera, Francesca Ragona, Jacopo C. DiFrancesco, Elena Freri, Silvana Franceschetti, Laura Canafoglia, Luisa Chiapparini
Publikováno v:
Seizure. 65:106-108
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1245f0a491a387f7eb98c76cbd56302
https://doi.org/10.1016/j.seizure.2019.01.005
https://doi.org/10.1016/j.seizure.2019.01.005
Autor:
Stefano Tozza, Emilia Bellone, Giancarlo Comi, Marina Scarlato, Paola Carrera, Ivan Molineris, Elena Maria Pennisi, Stefano C. Previtali, Fiore Manganelli, Mary M. Reilly, Davide Pareyson, Franco Taroni, Anna Mazzeo, Albena Jordanova, Marcella Devoto, Chiara Pisciotta, Moreno Ferrarini, Luca Padua, Giuseppe Vita, Alessandra Bolino, Angelo Schenone, Matteo Garibaldi, Nilo Riva, Stefania Magri, Vidmer Scaioli, Maurizio Ferrari, Gian Maria Fabrizi, Giovanni Battista Pipitone, Dejan Lazarevic, Alessandro Geroldi, Edward Zhao
Publikováno v:
Journal of neurology, neurosurgery and psychiatry
BackgroundInherited peripheral neuropathies (IPNs) represent a broad group of genetically and clinically heterogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor neuropathy (HMN). Approximately 60%–70% of cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f13f7dfba9e2dbeef19e878a7e91283
http://hdl.handle.net/11573/1307647
http://hdl.handle.net/11573/1307647
Publikováno v:
Journal of Child Neurology. 35:84-85
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8191b3707c21913a3407f762128bce13
https://doi.org/10.1177/0883073819872913
https://doi.org/10.1177/0883073819872913
Autor:
Davide Pareyson, Mona M. Freidin, Eleonora Lamantea, Sarah Wong, Charles K. Abrams, Rafael E. Flores-Obando, Laura Farina, Steven S. Scherer, Ettore Salsano, Vidmer Scaioli
Publikováno v:
Journal of Neurology. 261:1929-1938
Recessive mutations in GJC2, the gene encoding connexin 47 (Cx47), cause Pelizaeus-Merzbacher-like disease type 1 (PMLD1), a severe dysmyelinating disorder. One recessive mutation (p.Ile33Met) has been associated with a much milder phenotype - Heredi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c7144ff81f76e15db7584b63959e434
https://doi.org/10.1007/s00415-014-7429-1
https://doi.org/10.1007/s00415-014-7429-1
Autor:
Laura Canafoglia, Francesca Ragona, Tiziana Granata, Vidmer Scaioli, Giuliano Avanzini, Silvana Franceschetti, Ferruccio Panzica, Elena Freri, Simona Binelli, Elena Piazza
Publikováno v:
Epilepsy research. 130
Purpose we characterized multifocal myoclonus in Dravet syndrome (DS) that was never systematically typified before. Methods we studied EEG-EMG recordings of 19 consecutive patients, aged 2–29 years, with DS associated with SCN1A gene mutations to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ed9d5f4f1fee4669d9b8af4bd4987f
https://pubmed.ncbi.nlm.nih.gov/28126647
https://pubmed.ncbi.nlm.nih.gov/28126647
Autor:
Vidmer, Scaioli1 vscaioli@istituto-besta.it, Sergio, Curzi1, Veronica, Saletti1, Flavia, Tripaldi1, Silvia, Esposito1, Sara, Bulgheroni1, Valentini, Laura1, Daria, Riva1, Solero, Carlo1
Publikováno v:
Neurological Sciences. Dec2011, Vol. 32, p311-316. 6p.
Autor:
Vidmer Scaioli, Gian Maria Fabrizi, Davide Pareyson, Franco Taroni, Giuseppe Lauria, Michela Morbin, Chiara Marchesi, M Milani, M. Cesani, Tiziana Cavallaro, Giovanni Piccolo
Publikováno v:
Neurology. 75:1830-1838
Objective: To report 4 cases of autosomal recessive hereditary neuropathy associated with novel mutations in the periaxin gene (PRX) with a review of the literature. Periaxin protein is required for the maintenance of peripheral nerve myelin. Patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fb2fe154df1bfae3afbaa016aeb45fe
https://doi.org/10.1212/wnl.0b013e3181fd6314
https://doi.org/10.1212/wnl.0b013e3181fd6314