Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Rosanna Maria Di Bartolo"'
Autor:
Alessandra Renieri, Giangennaro Coppola, Gabriella Bartalini, Rosanna Maria Di Bartolo, Salvatore Grosso, Paolo Curatolo, Lucia Pucci, Paolo Balestri, R. Scarinci
Publikováno v:
Epilepsy Research. 79:63-70
Summary Epilepsy and electroencephalographic (EEG) anomalies are common in subjects carrying chromosomal aberrations. We report clinical and EEG investigations on 13 patients carrying chromosome 2 anomalies, including two patients with inversions, si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e18b81b7af1e1ab9a7044595e58d7235
https://doi.org/10.1016/j.eplepsyres.2007.12.011
https://doi.org/10.1016/j.eplepsyres.2007.12.011
Autor:
Paolo Balestri, Daniela Galimberti, Giuseppe Gobbi, Rosanna Maria Di Bartolo, Guido Morgese, M. A. Farnetani, Salvatore Grosso
Publikováno v:
Epilepsy Research. 66:13-21
Introduction: This paper describes the characteristics of patients with typical absence seizures associated with localization related epilepsy (LRE) and compares electroclinical features of absences occurring in these patients with those having child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a8bf358b164fa45eeccac18e2ce4e9
https://doi.org/10.1016/j.eplepsyres.2005.06.006
https://doi.org/10.1016/j.eplepsyres.2005.06.006
Autor:
Martina Balestri, M. A. Farnetani, Paolo Balestri, Lucia Pucci, Cecilia Anichini, Rosanna Maria Di Bartolo, Rosa Mostardini, Daniela Galimberti, Guido Morgese, Salvatore Grosso
Publikováno v:
Journal of Child Neurology. 19:604-608
Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc1d991c7092968427117d6bbcbc9b72
https://doi.org/10.1177/088307380401900807
https://doi.org/10.1177/088307380401900807
Autor:
Paolo Balestri, Guido Morgese, Gabriella Bartalini, Rosanna Maria Di Bartolo, Cecilia Anichini, Salvatore Grosso, Lucia Pucci, Rosa Mostardini, Daniela Galimberti, M. A. Farnetani, Rosario Berardi
Publikováno v:
Journal of Clinical Neurophysiology. 21:249-253
Although epilepsy and mental retardation are commonly observed in individuals with chromosomal aberrations, the identification of EEG/epileptic profiles in those with specific chromosome anomalies remains difficult. A few syndromes seem to show pecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72bf290c66f72b10d22f1e40aec2378
https://doi.org/10.1097/00004691-200407000-00003
https://doi.org/10.1097/00004691-200407000-00003
Autor:
Paolo Balestri, Caterina Pagano, Guido Morgese, Maddalena Cioni, Rosanna Maria Di Bartolo, Salvatore Grosso
Publikováno v:
Brain and Development. 25:294-298
Schinzel-Giedion syndrome (SGS) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bcd5c5f680d1a510a87b37ca8143814
https://doi.org/10.1016/s0387-7604(02)00232-2
https://doi.org/10.1016/s0387-7604(02)00232-2
Summary Background Epileptic syndromes with continuous spikes-waves during sleep (CSWS) represent a wide spectrum of epileptic disorders having CSWS as a common EEG-feature. Defined therapeutic strategies are still lacking. We evaluated the efficacy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7d0f211efe291d4751c27949a6fc39
http://hdl.handle.net/11365/50008
http://hdl.handle.net/11365/50008
Autor:
Paolo Balestri, Nelia Zamponi, Elisabetta Cesaroni, Rosanna Maria Di Bartolo, Silvia Cappanera, Salvatore Grosso, Arnaldo Bartocci
Objective Status epilepticus (SE) is considered a life-threatening medical emergency. First-line treatment with antiepileptic drugs (AEDs) consists of intravenous benzodiazepines followed by phenytoin. SE is considered refractory (RSE) when unrespons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c5823a4dfe70213b1fdb8a22dfcc305
http://hdl.handle.net/11365/50009
http://hdl.handle.net/11365/50009
Autor:
Salvatore Grosso, Paolo Balestri, Alberto Verrotti, Rosa Mostardini, Rosanna Maria Di Bartolo
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies which is related to the deletion of tandem repeats on chromosome 4q35. Extramuscular features such as hearing loss, retinopathy, mental retardation, and epil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::433bd3e0e2f68164556ccd49dcb2edd6
http://hdl.handle.net/11697/125247
http://hdl.handle.net/11697/125247
Autor:
Salvatore Grosso, Paolo Balestri, R. Vivarelli, Rosanna Maria Di Bartolo, Giuseppe Gobbi, Rosario Berardi
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 12(5)
Late onset childhood occipital epilepsy–Gastaut type (LOCOE) is a rare idiopathic epilepsy syndrome with an uncertain long-term prognosis. Elementary visual hallucinations and interictal spike-and-wave complexes in the occipital areas represent the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf4f35ef17c7c8bf61a50e98c5657ba
https://pubmed.ncbi.nlm.nih.gov/18249143
https://pubmed.ncbi.nlm.nih.gov/18249143
Autor:
Raffaella Zannolli, Vito Colamaria, Letizia Corbini, J. Hayek, Rosanna Maria Di Bartolo, Alessandra Orsi, Michele Zappella, Francesca Macucci, Sabrina Buoni
Objective Epilepsy with mutation of the CDKL 5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52641b0c7cf6239c71b0cbfa96dfd1cc
http://hdl.handle.net/11365/21279
http://hdl.handle.net/11365/21279