RE-BVS – Piemonte Repository

Sfoglia per AUTORE
PENSATO V
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...

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...

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS? in Amyotrophic lateral sclerosis & frontotemporal degeneration / Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):273-279. doi: 10.1080/21678421.2019

2020
AOU Novara

Corrado L; Pensato V; Croce R; Di Pierro A; Mellone S; Dalla Bella E; Salsano E; Paraboschi EM; Giordano M; Saraceno M; Mazzini L; Gellera C; D'Alfonso S;

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...

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. in Neuron / Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

2014
AOU Novara

Smith BN; Ticozzi N; Fallini C; Gkazi AS; Topp S; Kenna KP; Scotter EL; Kost J; Keagle P; Miller JW; Calini D; Vance C; Danielson EW; Troakes C; Tiloca C; Al-Sarraj S; Lewis EA; King A; Colombrita C; Pensato V; Castellotti B; de Belleroche J; Baas F; ten Asbroek AL; Sapp PC; McKenna-Yasek D; McLaughlin RL; Polak M; Asress S; et alii...