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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
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, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: corcia p. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: corcia p. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.
Willemse SW, Roes KCB, Van Damme P, Hardiman O, Ingre C, Povedano M, Wray NR, Gijzen M, de Pagter MS, Demaegd KC, Janse AFC, Vink RG, Sleutjes BTHM, Chiò A, Corcia P, Reviers E, Al-Chalabi A, Kiernan MC, van den Berg LH, van Es MA, van Eijk RPA. Willemse SW, et al. Among authors: corcia p. Trials. 2022 Dec 5;23(1):978. doi: 10.1186/s13063-022-06906-5. Trials. 2022. PMID: 36471413 Free PMC article.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Chen Z, Reynolds RH, Pardiñas AF, Gagliano Taliun SA, van Rheenen W, Lin K, Shatunov A, Gustavsson EK, Fogh I, Jones AR, Robberecht W, Corcia P, Chiò A, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Silani V, Hardy JA, Houlden H, Owen MJ, Turner MR, Ryten M, Al-Chalabi A. Chen Z, et al. Among authors: corcia p. Neurobiol Dis. 2023 May;180:106082. doi: 10.1016/j.nbd.2023.106082. Epub 2023 Mar 15. Neurobiol Dis. 2023. PMID: 36925053 Free article.
PRECISION ALS-an integrated pan European patient data platform for ALS.
McFarlane R, Galvin M, Heverin M, Mac Domhnaill É, Murray D, Meldrum D, Bede P, Bolger A, Hederman L, Impey S, Stephens G, O'Meara C, Wade V, Al-Chalabi A, Chiò A, Corcia P, van Damme P, Ingre C, McDermott C, Povedanos M, van den Berg L, Hardiman O. McFarlane R, et al. Among authors: corcia p. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):389-393. doi: 10.1080/21678421.2023.2215838. Epub 2023 May 23. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 37221648 Free article.
Diagnosing primary lateral sclerosis: a clinico-pathological study.
de Boer EMJ, de Vries BS, Van Hecke W, Mühlebner A, Vincken KL, Mol CP, van Rheenen W, Westeneng HJ, Veldink JH, Höglinger GU, Morris HR, Litvan I, Raaphorst J, Ticozzi N, Corcia P, Vandenberghe W, Pijnenburg YAL, Seelaar H, Ingre C, Van Damme P, van den Berg LH, van de Warrenburg BPC, van Es MA. de Boer EMJ, et al. Among authors: corcia p. J Neurol. 2024 Dec 12;272(1):46. doi: 10.1007/s00415-024-12816-0. J Neurol. 2024. PMID: 39666071
Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.
Grant OA, Iacoangeli A, Zwamborn RAJ, van Rheenen W, Byrne R, Van Eijk KR, Kenna K, van Vugt JJFA, Cooper-Knock J, Kenna B, Vural A, Topp S, Campos Y, Weber M, Smith B, Dobson R, van Es MA, Vourc'h P, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Mill J, Garton F, McRae A, Wray NR, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Van Damme P, McLaughlin RL, van den Berg LH, Veldink JH, Al-Chalabi A, Al Khleifat A. Grant OA, et al. Among authors: corcia p. bioRxiv [Preprint]. 2024 Nov 25:2024.11.22.624866. doi: 10.1101/2024.11.22.624866. bioRxiv. 2024. PMID: 39651197 Free PMC article. Preprint.
336 results