Sfoglia per AUTORE
VELDINK JH
Collezione AOU Città della Salute di Torino

  

Items : 19

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...

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. in Nature communications / Nat Commun. 2024 Jul 2;15(1):5560. doi: 10.1038/s41467-024-49938-y.
2024
AOU Città della Salute di Torino

Fogh I; Shatunov A; Mehta PR; Mayl K; Abel O; Topp SD; Iacoangeli A; Opie-Martin S; Bowles H; Limbachiya N; Spargo TP; Al-Khleifat A; Williams KL; Jockel-Balsarotti J; Bali T; Self W; Henden L; Nicholson GA; Ticozzi N; McKenna-Yasek D; Tang L; Shaw PJ; Chio A; Ludolph A; Weishaupt JH; Landers JE; Glass JD; Mora JS; Robberecht W; et alii...

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases. in Neurobiology of disease / Neurobiol Dis. 2023 May;180:106082. doi: 10.1016/j.nbd.2023.106082. Epub 2023 Mar 15.
2023
AOU Città della Salute di Torino

Houlden H; Owen MJ; Turner MR; Hardy JA; Silani V; Powell JF; Shaw CE; van den Berg LH; Veldink JH; Shaw PJ; Morrison KE; Corcia P; Chiò A; Robberecht W; Jones AR; Fogh I; Shatunov A; Gustavsson EK; Gagliano Taliun SA; van Rheenen W; Lin K; Pardiñas AF; Reynolds RH; Chen Z; Ryten M; Al-Chalabi A;

Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis. in Neurobiology of aging / Neurobiol Aging. 2023 Feb;122:76-87. doi: 10.1016/j.neurobiolaging.2022.11.010. Epub 2022 Nov 17.
2023
AOU Città della Salute di Torino

Weber M; Andersen PM; Neuwirth C; de Carvalho M; Van Damme P; Hardiman O; McLaughlin RL; Chio A; Al-Chalabi A; Pardina JSM; Ravits J; Nordin A; Canosa A; Brunetti M; Moglia C; Calvo A; Dooijes D; Moisse M; van Eijk KR; Gijzen M; Kool L; van Rheenen W; van Vugt JJFA; Seelen M; Hop PJ; Tazelaar GHP; van den Berg LH; Veldink JH; van Es MA; et alii...

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. in Nature communications / Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y.
2022
AOU Città della Salute di Torino

Opie-Martin S; Iacoangeli A; Topp SD; Abel O; Mayl K; Mehta PR; Shatunov A; Fogh I; Bowles H; Limbachiya N; Spargo TP; Al-Khleifat A; Williams KL; Jockel-Balsarotti J; Bali T; Self W; Henden L; Nicholson GA; Ticozzi N; McKenna-Yasek D; Tang L; Shaw PJ; Chio A; Ludolph A; Weishaupt JH; Landers JE; Glass JD; Mora JS; Robberecht W; et alii...

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...

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. in Science translational medicine / Sci Transl Med. 2022 Feb 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23.
2022
AOU Città della Salute di Torino

Hop PJ; Zwamborn RAJ; Hannon E; Shireby GL; Nabais MF; Walker EM; van Rheenen W; van Vugt JJFA; Dekker AM; Westeneng HJ; Tazelaar GHP; van Eijk KR; Moisse M; Baird D; Al Khleifat A; Iacoangeli A; Ticozzi N; Ratti A; Cooper-Knock J; Morrison KE; Shaw PJ; Basak AN; Chiò A; Calvo A; Moglia C; Canosa A; Brunetti M; Grassano M; Gotkine M; et alii...

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. in Frontiers in cellular neuroscience / Front Cell Neurosci. 2022 Dec 15;16:1050596. doi: 10.3389/fncel.2022.1050596. eCollection 2022.
2022
AOU Città della Salute di Torino

Landers JE; Glass JD; Shaw PJ; Mora JS; Panades MP; Gotkine M; de Carvalho M; Corcia P; Chio A; Vourc'h P; McLaughlin RL; van Es MA; Dobson R; Morrison KE; Silani V; Fogh I; Smith B; Weber M; Campos Y; Vural A; Opie-Martin S; López V; Byrne R; Kenna K; Van Eijk KR; Kenna B; van Rheenen W; Topp S; Cooper-Knock J; 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...

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...

Reconsidering the causality of TIA1 mutations in ALS. in Amyotrophic lateral sclerosis & frontotemporal degeneration / Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):1-3. doi: 10.1080/21678421.2017.141
2018
AOU Città della Salute di Torino

Silani V; van Damme P; Panadés MP; Shaw PJ; Robberecht W; Morrison KE; Mitne-Neto M; Mora JS; Glass JD; Hardiman O; Drory VE; Couratier P; Corcia P; Chio A; de Carvalho M; Blair I; Nazli Basak A; Andersen P; Iacoangeli A; van Vugt JJFA; van Eijk KR; Moisse M; Mclaughlin RL; Kooyman M; Ticozzi N; Kenna KP; Pulit SL; van Rheenen W; van der Spek RA; et alii...

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials. in Neurology / Neurology. 2017 Oct 31;89(18):1915-1922. doi: 10.1212/WNL.0000000000004606. Epub 2017 Oct 4.
2017
AOU Città della Salute di Torino

van Eijk RPA; Jones AR; Sproviero W; Shatunov A; Shaw PJ; Leigh PN; Young CA; Shaw CE; Mora G; Mandrioli J; Borghero G; Volanti P; Diekstra FP; van Rheenen W; Verstraete E; Eijkemans MJC; Veldink JH; Chio A; Al-Chalabi A; van den Berg LH; van Es MA;

Amyotrophic lateral sclerosis. in Lancet (London, England) / Lancet. 2017 Nov 4;390(10107):2084-2098. doi: 10.1016/S0140-6736(17)31287-4. Epub 2017 May 25.
2017
AOU Città della Salute di Torino

van Es MA; Hardiman O; Chio A; Al-Chalabi A; Pasterkamp RJ; Veldink JH; van den Berg LH; van Es MA; Hardiman O; Chio A; Al-Chalabi A; Pasterkamp RJ; Veldink JH; van den Berg LH;

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...

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. in Alzheimer's & dementia : the journal of the Alzheimer's Association / Alzheimers Dement. 2015 Dec;11(12):1407-1416. doi: 10.1016/j.jalz.2014.12.009. Epub 2015 Apr 30.
2015
AOU Città della Salute di Torino

Lill CM; Rengmark A; Pihlstrøm L; Fogh I; Shatunov A; Sleiman PM; Wang LS; Liu T; Lassen CF; Meissner E; Alexopoulos P; Calvo A; Chio A; Dizdar N; Faltraco F; Forsgren L; Kirchheiner J; Kurz A; Larsen JP; Liebsch M; Linder J; Morrison KE; Nissbrandt H; Otto M; Pahnke J; Partch A; Restagno G; Rujescu D; Schnack C; 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...

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study. in The Lancet. Neurology / Lancet Neurol. 2014 Nov;13(11):1108-1113. doi: 10.1016/S1474-4422(14)70219-4. Epub 2014 Oct 7.
2014
AOU Città della Salute di Torino

Al-Chalabi A; Calvo A; Chio A; Colville S; Ellis CM; Hardiman O; Heverin M; Howard RS; Huisman MHB; Keren N; Leigh PN; Mazzini L; Mora G; Orrell RW; Rooney J; Scott KM; Scotton WJ; Seelen M; Shaw CE; Sidle KS; Swingler R; Tsuda M; Veldink JH; Visser AE; van den Berg LH; Pearce N;