Dystonia in Angelman syndrome: a common, unrecognized clinical finding

Autor: Umberto Aguglia, Giulia Ferrigno, Tiziana D'Agostino, Francesca Abate, Sara Gasparini, Michele Ascoli, Chiara Sueri, Giovanni Mastroianni, Edoardo Ferlazzo, Vittoria Cianci

Publikováno v: Journal of neurology
268 (2021): 2208–2212. doi:10.1007/s00415-020-10395-4
info:cnr-pdr/source/autori:Ferlazzo, Edoardo; Ascoli, Michele; Abate, Francesca; Gasparini, Sara; Mastroianni, Giovanni; Cianci, Vittoria; Ferrigno, Giulia; Sueri, Chiara; D'Agostino, Tiziana; Aguglia, Umberto/titolo:Dystonia in Angelman syndrome: a common, unrecognized clinical finding/doi:10.1007%2Fs00415-020-10395-4/rivista:Journal of neurology (Print)/anno:2021/pagina_da:2208/pagina_a:2212/intervallo_pagine:2208–2212/volume:268

Introduction Angelman syndrome (AS) is a neurodevelopmental disorder characterized by cognitive disability, speech impairment, hyperactivity and seizures. Movement disorders have been reported in almost all AS subjects and they are described as "trem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f01f00a1cc3c868e14ba50e8a860acd
https://doi.org/10.1007/s00415-020-10395-4

Dystonia in Angelman syndrome: a common, unrecognized clinical finding

Autor: Edoardo, Ferlazzo, Michele, Ascoli, Francesca, Abate, Sara, Gasparini, Giovanni, Mastroianni, Vittoria, Cianci, Giulia, Ferrigno, Chiara, Sueri, Tiziana, D'Agostino, Umberto, Aguglia

Publikováno v: Journal of neurology. 268(6)

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by cognitive disability, speech impairment, hyperactivity and seizures. Movement disorders have been reported in almost all AS subjects and they are described as "tremulous movemen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::af2066e899b4bb30ad38bb93d7b31f21
https://pubmed.ncbi.nlm.nih.gov/33484323

Migraine causes retinal and choroidal structural changes: evaluation with ocular coherence tomography

Autor: Clara Grazia Chisari, Giorgia Sciacca, Ester Reggio, Giulia Ferrigno, Mario Zappia, Giulia Donzuso, Teresio Avitabile, Francesco Patti, Salvatore Faro

Publikováno v: Journal of Neurology. 264:494-502

Few studies have evaluated whether the retina is involved in migraine through the evaluation of retinal nerve fiber layer (RNFL) examined with ocular coherence tomography (OCT) with conflicting results. Aim of this case–control study is to evaluate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb2651b6ec31cf55ffad3c5f1b6f7157
https://doi.org/10.1007/s00415-016-8364-0

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome

Autor: Umberto Aguglia, Laura Canafoglia, Maurizio Elia, Giulia Ferrigno, Tiziana D'Agostino, Chiara Pantaleoni, Michele Ascoli, Chiara Sueri, Sara Gasparini, Silvana Franceschetti, Edoardo Ferlazzo, Vittoria Cianci, Ferruccio Panzica

Publikováno v: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 130(12)

Objective The clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c23bcad6660d191dd855ed063653802
https://pubmed.ncbi.nlm.nih.gov/31704627

Diagnostic biomarkers of epilepsy

Autor: Umberto Aguglia, Antonio Leo, Angelo Labate, Michele Trimboli, Silvia Casarotto, Chiara Sueri, Emilio Russo, Sara Gasparini, Vittoria Cianci, Salvatore M Cavalli, Edoardo Ferlazzo, Antonio Gambardella, Giulia Ferrigno, Francesca Pittau, Michele Ascoli, Simona Balestrini

Publikováno v: Current pharmaceutical biotechnology (Online) 19 (2018): 440–450. doi:10.2174/1389201019666180713095251
info:cnr-pdr/source/autori:Sueri C.; Gasparini S.; Balestrini S.; Labate A.; Gambardella A.; Russo E.; Leo A.; Casarotto S.; Pittau F.; Trimboli M.; Cianci V.; Ascoli M.; Cavalli S.M.; Ferrigno G.; Aguglia U.; Ferlazzo E./titolo:Diagnostic biomarkers of epilepsy/doi:10.2174%2F1389201019666180713095251/rivista:Current pharmaceutical biotechnology (Online)/anno:2018/pagina_da:440/pagina_a:450/intervallo_pagine:440–450/volume:19

Background Diagnostic biomarkers of epilepsy are objectively measurable variables associated with the development of epilepsy or the propensity to generate seizures. Identification of biomarkers could be helpful for differential diagnosis and for tai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db0889c2340b57561627e02e8c2ed2e
http://www.scopus.com/inward/record.url?eid=2-s2.0-85053793560&partnerID=q2rCbXpz