Sfoglia per AUTORE
GELLERA C
Collezione AOU Città della Salute di Torino

  

Items : 11

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...

G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation. in Neurobiology of aging / Neurobiol Aging. 2022 Oct;118:124-128. doi: 10.1016/j.neurobiolaging.2022.05.006. Epub 2022 May 16.
2022
AOU Città della Salute di Torino

Mandrioli J; Chiò A; Gianferrari G; Traynor BJ; Gellera C; Pensato V; Martinelli I; Zucchi E;

2022
AOU Città della Salute di Torino
AOU Novara
ASL Torino 4
ASL Asti
ASL Biella
ASL Vercelli

Silani V; Weber M; Rouleau GA; Pinto S; de Carvalho M; Petri S; Wallace L; Henders AK; Curtis CJ; Breen G; Sachdev PS; Mather KA; Williams KL; Steyn FJ; Rowe DB; Pamphlett R; Nicholson GA; Ngo ST; Needham M; McCombe PA; Mathers S; Furlong S; Henderson RD; Benyamin B; Kiernan MC; Blair IP; Povedano M; Stevi? Z; Drory V; et alii...

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. in NPJ genomic medicine / NPJ Genom Med. 2022 Jan 28;7(1):8. doi: 10.1038/s41525-021-00267-9.
2022
AOU Città della Salute di Torino

Al Khleifat A; Iacoangeli A; van Vugt JJFA; Bowles H; Moisse M; Zwamborn RAJ; van der Spek RAA; Shatunov A; Cooper-Knock J; Topp S; Byrne R; Gellera C; López V; Jones AR; Opie-Martin S; Vural A; Campos Y; van Rheenen W; Kenna B; Van Eijk KR; Kenna K; Weber M; Smith B; Fogh I; Silani V; Morrison KE; Dobson R; van Es MA; McLaughlin RL; et alii...

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30.
2022
AOU Città della Salute di Torino

Mariotti C; Bruzzone MG; Brusco A; Cortelli P; Sambati L; Fancellu R; Ricci B; Mongelli A; Rizzo E; Sarto E; Gellera C; Magri S; Nanetti L; Di Bella D; Taroni F;

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...

2021
AOU Città della Salute di Torino
AOU Novara
ASL Torino 4
ASL Asti
ASL Biella
ASL Vercelli

Sachdev PS; Mather KA; Williams KL; Steyn FJ; Rowe DB; Pamphlett R; Nicholson GA; Ngo ST; Needham M; McCombe PA; Mathers S; Furlong S; Henderson RD; Benyamin B; Kiernan MC; Blair IP; Povedano M; Stevi? Z; Drory V; Glava? D; Ravnik-Glava? M; Zidar J; Koritnik B; Rogelj B; Ataulina A; Demeshonok V; Fominykh V; Brylev L; Hübner CA; et alii...

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis. in The Journal of molecular diagnostics : JMD / J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.
2018
AOU Città della Salute di Torino

Cagnoli C; Brussino A; Mancini C; Ferrone M; Orsi L; Salmin P; Pappi P; Giorgio E; Pozzi E; Cavalieri S; Di Gregorio E; Ferrero M; Filla A; De Michele G; Gellera C; Mariotti C; Nethisinghe S; Giunti P; Stevanin G; Brusco A;

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...

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study. in Neurobiology of aging / Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Ap
2014
AOU Città della Salute di Torino
AOU Novara

Hardiman O; Cronin S; Andersen PM; D'Alfonso S; Fogh I; Shatunov A; Robberecht W; van Damme P; Goris A; Ludolph AC; Waibel S; Meyer T; Corti S; Del Bo R; Mazzini L; Groen EJ; Corrado L; van Vught PW; Blauw HM; van Es MA; Saris CG; Lemmens R; Birve A; Traynor BJ; Restagno G; Mora G; Calvo A; Taroni F; Chiò A; et alii...