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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.
Could PLS represent a UMN-predominant ALS syndrome?
Corcia P, Couratier P, Ingre C. Corcia P, et al. Rev Neurol (Paris). 2024 May 22:S0035-3787(24)00529-0. doi: 10.1016/j.neurol.2024.04.006. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38782644 Review.
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Marriott H, et al. Among authors: corcia p. Ann Clin Transl Neurol. 2024 May 22. doi: 10.1002/acn3.52083. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38775181 Free article.
319 results