Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Elena R. Praticò"'
Autor:
Andrea D. Praticò, M.D., Elena R. Praticò, Novella Rotolo, Stefania Salafia, Chiara Franzonello, Salvatore Leonardi
Publikováno v:
Annals of Hepatology, Vol 14, Iss 6, Pp 933-936 (2015)
Today the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pa
Externí odkaz:
https://doaj.org/article/c3d9517487474926a5c1fc678621b775
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:
Elena R. Praticò, Giulia Salomone, Manuela Lo Bianco, Giulia Pecora, Mattia Comella, Anna Portale, Giuseppe Costanza, Sarah Sciuto, Raffaele Falsaperla
Publikováno v:
Journal of Pediatric Neurology.
Disheveled EGL-10 and pleckstrin domain-containing protein 5 (DEPDC5) is a key member of the GAP activity toward rags complex 1 complex, which inhibits the mammalian target of rapamycin complex 1 (mTORC1) pathway. DEPDC5 loss-of-function mutations le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412a0adbf685246e367342639ceece11
https://doi.org/10.1055/s-0041-1727139
https://doi.org/10.1055/s-0041-1727139
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:
Raffaele Falsaperla, Giulia Lombardo, Tiziana Timpanaro, Antonio Zanghì, Flavia La Mendola, Daniela Caruso, Maria Teresa Garozzo, Catia Romano, Elena R. Praticò, Santiago Presti
Despite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7167e0a1d0fb6fd951ae0e9af7b5ccd2
http://hdl.handle.net/20.500.11769/508406
http://hdl.handle.net/20.500.11769/508406
Autor:
Milena Motta, Raffaele Falsaperla, Laura Sciuto, Stefania Salafia, Alessandra Fontana, Antonio Zanghì, Andrea D. Praticò, Maria Chiara Consentino, Elena R. Praticò
The phenotypic variety associated to mutations in dynamin 1 (DNM1), codifying the presynaptic protein DNM1 has been increasingly reported, mainly related to encephalopathy with intractable epilepsy; currently, it is known the phenotype related to DNM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76f495ea563b389331ed022dec038c5
http://hdl.handle.net/20.500.11769/508412
http://hdl.handle.net/20.500.11769/508412
Autor:
Francesca Patanè, Laura Sciuto, Federica Sullo, Raffaele Falsaperla, Elisa Pasquetti, Elena R. Praticò, Maria Teresa Garozzo, Monica Tosto
Epileptic encephalopathy is a condition in which seizures, electroencephalographic epileptiform abnormalities lead to a progressive deterioration of brain functions causing a significant psychomotor delay. One of the typical features of this heteroge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93ef1dd2bc9f5fc9f4fd93df99b58e10
http://hdl.handle.net/20.500.11769/508416
http://hdl.handle.net/20.500.11769/508416
Autor:
Martino Ruggieri, Maria Teresa Garozzo, Simona Domenica Marino, Concetta Pirrone, Francesco Lacarrubba, Elena R. Praticò, Agata Polizzi, Carmelo Schepis, Ignacio Pascual-Castroviejo, Valeria Venti, Antonino Zanghì, Enrica Quattrocchi, Flavia La Mendola, Andrea D. Praticò, Giuseppe Micali
Publikováno v:
Journal of Pediatric Neurology. 16:347-351
Speckled lentiginous nevus syndrome is a rare neurocutaneous phenotype, characterized by a specked lentiginous nevus, appearing as a light brown macule superimposed by multiple melanocytic nevi in the form of macules or papules with uneven distributi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c7a16c6407589afd7a8a71d974a5b7d
https://doi.org/10.1055/s-0038-1667110
https://doi.org/10.1055/s-0038-1667110
Autor:
Ignacio Pascual-Castroviejo, Francesco Lacarrubba, Andrea D. Praticò, Agata Polizzi, Concetta Pirrone, Anna Elisa Verzì, Giuseppe Micali, Elena R. Praticò, Stefania Salafia, Sara Paternò, Maria Elena Cucuzza, Elena Commodari, Stefano Catanzaro, Martino Ruggieri, Daniele Attardo, Carmelo Schepis, Antonio Zanghì
Publikováno v:
Journal of Pediatric Neurology. 16:352-361
The simultaneous occurrence of a patch of light or dark brown hyperpigmentation with hypertrichosis (Becker's nevus) together with (usually ipsilateral) soft tissues hypoplasia (especially breast, in women) and underlying skeletal anomalies (i.e., ve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d24f3099ff9df1373dd4181167568b9
https://doi.org/10.1055/s-0038-1667168
https://doi.org/10.1055/s-0038-1667168
Autor:
Elena R. Praticò, Carmelo Schepis, Andrea D. Praticò, Stefania Tomarchio, Concetta Pirrone, Stefano Catanzaro, Antonio Zanghì, Orhan Konez, Elena Commodari, Martino Ruggieri, Agata Polizzi, Anna Portale, Giuseppe Belfiore
Wyburn–Mason syndrome is a very rare neurocutaneous disorder characterized by unilateral arteriovenous malformations of the midbrain associated with vascular abnormalities of eye and optic pathways, as well as multiple cutaneous nevi, reddish-bluis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18dfc91e46b851b5272a17438ad89f02
http://hdl.handle.net/20.500.11769/353935
http://hdl.handle.net/20.500.11769/353935