RE-BVS – Piemonte Repository

Sfoglia per AUTORE
COLOMBRITA C
Collezione AOU Novara

Items : 4

C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS. in International journal of molecular sciences / Int J Mol Sci. 2021 Sep 27;22(19):10385. doi: 10.3390/ijms221910385.

2021
AOU Novara

Lualdi M; Shafique A; Pedrini E; Pieroni L; Greco V; Castagnola M; Cucina G; Corrado L; Di Pierro A; De Marchi F; Camillo L; Colombrita C; D'Anca M; Alberio T; D'Alfonso S; Fasano M;

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...

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases. in Amyotrophic lateral sclerosis & frontotemporal degeneration / Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):426-431. doi: 10.1080/21678421.2018

2018
AOU Novara

Corrado L; Tiloca C; Locci C; Bagarotti A; Hamzeiy H; Colombrita C; De Marchi F; Barizzone N; Cotella D; Ticozzi N; Mazzini L; Nazli Basak A; Ratti A; Silani V; D'alfonso S;

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...