Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Chiara Begliuomini"'
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:
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:
Valeria A. Sansone, Claudia Brogna, Giacomo P. Comi, Tommaso Verdolotti, Anna Pichiecchio, Emilio Albamonte, Marika Pane, Giovanni Antonini, Angela Berardinelli, Luana Ficociello, Giorgio Tasca, Claudia Cinnante, Lara Cristiano, Maria Carmela Pera, Laura Antonaci, Eugenio Mercuri, Chiara Begliuomini, Cesare Colosimo, Alessandra Govoni, Matteo Garibaldi, Tommaso Tartaglione, Luca Maria Sconfienza, Lorenzo Maggi
Only few studies have reported muscle involvement in spinal muscular atrophy using muscle MRI but this has not been systematically investigated in a large cohort of both pediatric and adult patients with type 2 and type 3 spinal muscular atrophy. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d98bab2c3eaf3c5d420d2bbdeba6419
http://hdl.handle.net/10807/153584
http://hdl.handle.net/10807/153584
Publikováno v:
Neurology. 91:850-850
Portaccio et al.1 reported that fetal exposure to natalizumab increases the risk of spontaneous abortions and congenital anomalies. The authors also described one autism spectrum disorder (ASD) and one language disorder case.