Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Giorgio Magli"'
Autor:
Chiara Scoppola, Giorgio Magli, Marta Conti, Maria Fadda, Giovanni M. Luzzu, Delia M. Simula, Alessandra Carta, Stefano Sotgiu, Susanna Casellato
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Glucose-transporter-1 deficiency syndrome (GLUT1-DS), due to SLC2A1 gene mutation, is characterized by early-onset seizures, which are often drug-resistant, developmental delay, and hypotonia. Hemiplegic migraine (HM) is a rare form of mi
Externí odkaz:
https://doaj.org/article/6ed7df3125704c5ea017eb0ebfccc622
Autor:
Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic variants of VARS2, a
Externí odkaz:
https://doaj.org/article/c7cb410551784920ae3f64d7008211dc
Autor:
Susanna Casellato, Giorgio Magli, Maria Fadda, Roberto Polano, Giovanni M. Luzzu, Marta Conti, Stefano Sotgiu
Publikováno v:
Seizure. 88:75-77
Autor:
Delia M. Simula, Susanna Casellato, Anna Eusebi, Alessandra Carta, Claudia Nesti, Chiara Begliuomini, Filippo M. Santorelli, Stefano Sotgiu, Veronica Dessì, Maja Di Rocco, Federica Deodato, Giorgio Magli, Denise Cassandrini, Daria Diodato
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic variants of VARS2, a nuclear g
Autor:
Veronica Dessì, Eduardo Nobile-Orazio, Pietro Emiliano Doneddu, Giorgio Magli, Alessandra Carta, Ilaria Onida, Stefano Sotgiu, Angela Nuvoli, Marta Conti, Silvia Festa, Paolo Castiglia
Publikováno v:
Neuropediatrics. 52(1)
Background Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare and disabling immunomediated radiculoneuropathy. Its worldwide epidemiology is heterogeneous and, in adults, CIDP prevalence varies from 0.6 to 9 cases per 100,000