Sfoglia per AUTORE
JONES A
Collezione AOU Novara

  

Items : 5

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. in Cell genomics / Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21.
2024
AOU Città della Salute di Torino
AOU Novara

Silani V; Siciliano G; Nath A; Wang T; Pasternack N; Doucet-O'Hare T; Johnson K; Gellera C; Ratti A; Pal S; Chandran S; D'Alfonso S; Cereda C; Sorarù G; Hardiman O; McLaughlin R; Al-Chalabi A; van den Berg LH; Scholz SW; Dalgard CL; Dobson RJB; Breen G; Shaw PJ; Cooper-Knock J; Morrison KE; Patel H; Chung R; Lee SH; Curtis CJ; 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

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;

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. in JAMA neurology / JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.
2021
AOU Città della Salute di Torino
AOU Novara

Tremolizzo L; Trojsi F; Torriello A; Tranquilli S; Tedeschi G; Ticca A; Tanel R; Simonini C; Spataro R; Simone I; Sbaiz L; Sideri R; Santarelli M; Salivetto M; Salvi F; Sabatelli M; Salamone P; Riolo G; Riva N; Russo M; Ricci C; Pugliatti M; Quattrini A; Pozzi S; Petrelli C; Petrucci A; Passaniti C; Origone P; Murru MR; et alii...

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. in Nature genetics / Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.
2016
AOU Città della Salute di Torino
AOU Novara

Casale F; Leigh PN; Hübner CA; Kurth I; Stubendorff B; Prell T; Ringer T; Witte OW; Grosskreutz J; Kiernan MC; Pamphlett R; Rowe DB; Nicholson GA; Fifita JA; McCann EP; Zhang K; Stuit RJ; Blair I; Muller B; Filosto M; Padovani A; Riva N; Penco S; Lunetta C; Zecca C; Capozzo R; Brunetti M; Arcuti S; Moglia C; et alii...

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. in JAMA neurology / JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114.
2016
AOU Città della Salute di Torino
AOU Novara

Shaw CE; van den Berg LH; Lewis CM; Hardiman O; Landers JE; Brown RH; Robberecht W; Van Damme P; D'Alfonso S; Traynor BJ; Mazzini L; Ticozzi N; Comi GP; Andersen PM; Leigh PN; Shaw PJ; Morrison KE; Melki J; Meininger V; van Rheenen W; Topp S; Smith BN; Dobson R; Glass JD; Newhouse S; Castellotti B; Cereda C; Del Bo R; Stahl D; et alii...