Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Tiziano D'Andrea"'
Autor:
Maria Cristina Benedetti, Tiziano D'andrea, Alessio Colantoni, Denis Silachev, Valeria de Turris, Zaira Boussadia, Valentina A. Babenko, Egor A. Volovikov, Lilia Belikova, Alexandra N. Bogomazova, Rita Pepponi, Dosh Whye, Elizabeth D. Buttermore, Gian Gaetano Tartaglia, Maria A. Lagarkova, Vladimir L. Katanaev, Ilya Musayev, Simone Martinelli, Sergio Fucile, Alessandro Rosa
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26656- (2024)
Pathogenic variants in the GNAO1 gene, encoding the alpha subunit of an inhibitory heterotrimeric guanine nucleotide-binding protein (Go) highly expressed in the mammalian brain, have been linked to encephalopathy characterized by different combinati
Externí odkaz:
https://doaj.org/article/9c89d53e3ca84cf1b006547afe2a7973
Autor:
Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scaduto, Roberta Colucci, Magali J. Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated ca
Externí odkaz:
https://doaj.org/article/e10238dc37c34dca979b890d533909f4
Autor:
Stefania Scalise, Clara Zannino, Valeria Lucchino, Michela Lo Conte, Luana Scaramuzzino, Pierangelo Cifelli, Tiziano D’Andrea, Katiuscia Martinello, Sergio Fucile, Eleonora Palma, Antonio Gambardella, Gabriele Ruffolo, Giovanni Cuda, Elvira Immacolata Parrotta
Publikováno v:
Biomedicines, Vol 10, Iss 5, p 1075 (2022)
Mutations in SCN1A gene, encoding the voltage-gated sodium channel (VGSC) NaV1.1, are widely recognized as a leading cause of genetic febrile seizures (FS), due to the decrease in the Na+ current density, mainly affecting the inhibitory neuronal tran
Externí odkaz:
https://doaj.org/article/4bda5b3dc42a4f45a71703891618758f
Autor:
Marta, Viggiano, Tiziano, D'Andrea, Cinzia, Cameli, Annio, Posar, Paola, Visconti, Maria Cristina, Scaduto, Roberta, Colucci, Magali J, Rochat, Fabiola, Ceroni, Giorgio, Milazzo, Sergio, Fucile, Elena, Maestrini, Elena, Bacchelli
Publikováno v:
Frontiers in psychiatry. 13
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated ca