Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sara Nappi"'
Autor:
Gayane Aghakhanyan, Paolo Bonanni, Giovanna Randazzo, Sara Nappi, Federica Tessarotto, Lara De Martin, Francesca Frijia, Daniele De Marchi, Francesco De Masi, Beate Kuppers, Francesco Lombardo, Davide Caramella, Domenico Montanaro
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162817 (2016)
Angelman syndrome (AS) is a rare neurogenetic disorder due to loss of expression of maternal ubiquitin-protein ligase E3A (UBE3A) gene. It is characterized by severe developmental delay, speech impairment, movement or balance disorder and typical beh
Externí odkaz:
https://doaj.org/article/166b47d1a0f14b538354c73806be8cdf
Autor:
Sara Nappi, Beate Kuppers, Francesco De Masi, Giovanna Randazzo, Francesco Lombardo, Davide Caramella, Federica Tessarotto, Gayane Aghakhanyan, Francesca Frijia, Domenico Montanaro, Paolo Bonanni, Daniele De Marchi, Lara De Martin
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 9, p e0162817 (2016)
PLoS ONE, Vol 11, Iss 9, p e0162817 (2016)
Angelman syndrome (AS) is a rare neurogenetic disorder due to loss of expression of maternal ubiquitin-protein ligase E3A (UBE3A) gene. It is characterized by severe developmental delay, speech impairment, movement or balance disorder and typical beh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a3c480bab651e5b528e39f9981c514
https://pubmed.ncbi.nlm.nih.gov/27626634
https://pubmed.ncbi.nlm.nih.gov/27626634
Autor:
Anita Nogarol, Andrea Martinuzzi, Sara Nappi, Giovanna Randazzo, Ornella Moret, Annamaria Gobbo, Paolo Bonanni, Michela Santin
Publikováno v:
Disability and rehabilitation. 31
Angelman syndrome (AS) accounts for upto 6% of all cases with severe mental retardation and epilepsy. Clinical findings include developmental delay, severely impaired expressive language, ataxic gait, tremulousness of limbs and a typical behavioral p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d05b15b8bf492069612f40f03ff960b
https://pubmed.ncbi.nlm.nih.gov/19968524
https://pubmed.ncbi.nlm.nih.gov/19968524