Sfoglia per AUTORE
NIGRO V
Collezione AOU Novara
Items : 2
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing. in Epilepsia / Epilepsia. 2024 Mar;65(3):779-791. doi: 10.1111/epi.17859. Epub 2023 Dec 23.
2024
AOU Novara
AOU Novara
Coppola A; Krithika S; Iacomino M; Bobbili D; Balestrini S; Bagnasco I; Bilo L; Buti D; Casellato S; Cuccurullo C; Ferlazzo E; Leu C; Giordano L; Gobbi G; Hernandez-Hernandez L; Lench N; Martins H; Meletti S; Messana T; Nigro V; Pinelli M; Pippucci T; Bellampalli R; Salis B; Sofia V; Striano P; Striano S; Tassi L; Vignoli A; et alii...
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase. in American journal of human genetics / Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005.
2024
AOU Novara
AOU Novara
Jones AG; Aquilino M; Tinker RJ; Duncan L; Jenkins Z; Carvill GL; DeWard SJ; Grange DK; Hajianpour MJ; Halliday BJ; Holder-Espinasse M; Horvath J; Maitz S; Nigro V; Morleo M; Paul V; Spencer C; Esterhuizen AI; Polster T; Spano A; Gómez-Lozano I; Kumar A; Poke G; Phillips JA 3rd; Underhill HR; Gimenez G; Namba T; Robertson SP;