Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Marina Mazzurco"'
Autor:
Giulio Pulvirenti, Marina Mazzurco, Martina Caccamo, Manuela Lo Bianco, Gloria Gangi, Raffaele Falsaperla, Antonio Zanghì, Alessandro Giallongo, Elena R. Praticò
Publikováno v:
Journal of Pediatric Neurology. 21:224-234
Calcium (Ca2+) channel gene mutations play an important role in the pathogenesis of neurological episodic disorders like epilepsy. CACNA1A and CACNA1H genes are involved in the synthesis of calcium channels. Mutations in the α1A subunit of the P/Q t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e184d5b290d197654ad890881cab86f
https://doi.org/10.1055/s-0041-1728684
https://doi.org/10.1055/s-0041-1728684
Autor:
Martina Caccamo, Stefania Salafia, Giulio Pulvirenti, Rachele Soma, Santiago Presti, Andrea D. Praticò, Marina Mazzurco, Raffaele Falsaperla, Federica Filosco, Elena R. Praticò
Protocadherin-19 (PCDH19) is considered one of the most relevant genes related to epilepsy. To date, more than 150 mutations have been identified as causative for PCDH19-female epilepsy (also known as early infantile epileptic encephalopathy-9, EIEE9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecddcd695b52790678890031fe08cd51
http://hdl.handle.net/20.500.11769/508413
http://hdl.handle.net/20.500.11769/508413
Autor:
Agata Polizzi, Anna Portale, Enrico Bertini, Martino Ruggieri, Laura Portale, Andrea D. Praticò, Marina Mazzurco, Piero Pavone
Aicardi–Goutières syndrome (AGS) is a rare disorder characterized by acquired microcephaly, cerebral calcifications, leukodystrophy, cerebral atrophy, chronic lymphocytosis, and increased interferon-α in cerebrospinal fluid. We report on two chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4f1b4f1f95e387edef33d79c974b56e
http://hdl.handle.net/20.500.11769/486864
http://hdl.handle.net/20.500.11769/486864
Autor:
Filippo Greco, Concetta Pirrone, Pierluigi Smilari, Francesco Lacarrubba, Martino Ruggieri, Agata Fiumara, Maria Teresa Garozzo, Antonio Zanghì, Daniele Attardo, Agata Polizzi, Carmelo Schepis, Marina Mazzurco, Andrea D. Praticò, Giuseppe Micali
Publikováno v:
Journal of Pediatric Neurology. 16:369-378
Encephalocraniocutaneous lipomatosis is a sporadic, congenital neurocutaneous disorder characterized by the involvement of skin, central nervous system, and eye. A non-hereditary, autosomal mutation that may survive only in a mosaic state may be the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f17f478c0d74c16ecaa034a6cc5fcac
https://doi.org/10.1055/s-0038-1667004
https://doi.org/10.1055/s-0038-1667004
Autor:
Annamaria Sapuppo, Federica Sullo, Carmela Rita Massimino, Martina Caccamo, Marina Mazzurco, Tiziana Timpanaro, Raffaele Falsaperla, Alessandra Fontana, Silvia Marino, Valeria Venti, Anna Portale, Piero Pavone, Luca Sabino
Publikováno v:
Biomedical Journal of Scientific & Technical Research. 23
Cerebral palsy (CP) is a disorder of movement, muscle tone or posture that is caused by an insult to the immature...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6fbe896d4d094e6d4bdc66976ae22d0
https://doi.org/10.26717/bjstr.2019.23.003898
https://doi.org/10.26717/bjstr.2019.23.003898
Autor:
Piero Pavone, Filippo Greco, Milena Di Luca, Pierluigi Smilari, Salvatore Cocuzza, E Pustorino, Agata Fiumara, Paola Di Mauro, Marina Mazzurco
Optic neuropathy consists of several etiological events. The primary etiologies of its acute form include optic neuritis, ischemic optic neuropathy, inflammatory (nondemyelinating) disorders, and trauma. Its subacute and chronic forms are most often
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3e8603515025b6049fa672e03e0db1
http://hdl.handle.net/20.500.11769/372971
http://hdl.handle.net/20.500.11769/372971
IIt is quite frequent in Emergency Department dealing with seizures or convulsive episodes, especially in pediatric age. Different could be the causes behind an epileeptic episode, usually distinguished in traumatic and non traumatic. Equally importa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7380f6ff145d7418dbb6eba969691220
Autor:
Laura Pierucci, Marina Mazzurco, Renato Simoni, Davide Micheli, Romano Fantacci, Alessandra Curto
Publikováno v:
GLOBECOM Workshops
Quality of Experience (QoE) is the subjective measurement of the quality of a telecommunication service perceived by the user. Overall acceptability may be influenced by user expectations and context, and QoE includes complete end-to-end system effec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ba7531dd7012dc746eba374df75736f
https://doi.org/10.1109/glocomw.2013.6825147
https://doi.org/10.1109/glocomw.2013.6825147