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Page 1
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
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, Lerner Y, Zabari M, Vourc'h P, Corcia P, Couratier P, Mora Pardina JS, Salas T, Dion P, Ross JP, Henderson RD, Mathers S, McCombe PA, Needham M, Nicholson G, Rowe DB, Pamphlett R, Mather KA, Sachdev PS, Furlong S, Garton FC, Henders AK, Lin T, Ngo ST, Steyn FJ, Wallace L, Williams KL; BIOS Consortium; Brain MEND Consortium; Neto MM, Cauchi RJ, Blair IP, Kiernan MC, Drory V, Povedano M, de Carvalho M, Pinto S, Weber M, Rouleau GA, Silani V, Landers JE, Shaw CE, Andersen PM, McRae AF, van Es MA, Pasterkamp RJ, Wray NR, McLaughlin RL, Hardiman O, Kenna KP, Tsai E, Runz H, Al-Chalabi A, van den Berg LH, Van Damme P, Mill J, Veldink JH. Hop PJ, et al. Among authors: povedano m. Sci Transl Med. 2022 Feb 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23. Sci Transl Med. 2022. PMID: 35196023 Free PMC article.
Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial.
Cudkowicz ME, van den Berg LH, Shefner JM, Mitsumoto H, Mora JS, Ludolph A, Hardiman O, Bozik ME, Ingersoll EW, Archibald D, Meyers AL, Dong Y, Farwell WR, Kerr DA; EMPOWER investigators. Cudkowicz ME, et al. Lancet Neurol. 2013 Nov;12(11):1059-67. doi: 10.1016/S1474-4422(13)70221-7. Epub 2013 Sep 23. Lancet Neurol. 2013. PMID: 24067398 Clinical Trial.
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Aragones JM, Altimiras J, Roura-Poch P, Homs E, Bajo L, Povedano M, Cortés-Vicente E, Illa I, Al-Chalabi A, Rojas-García R. Aragones JM, et al. Among authors: povedano m. Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct-Nov;17(7-8):522-527. doi: 10.1080/21678421.2016.1187175. Epub 2016 May 25. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 27224687
TRICALS: creating a highway toward a cure.
van Eijk RPA, Kliest T, McDermott CJ, Roes KCB, Van Damme P, Chio A, Weber M, Ingre C, Corcia P, Povedano M, Reviers E, van Es MA, Al-Chalabi A, Hardiman O, van den Berg LH. van Eijk RPA, et al. Among authors: povedano m. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(7-8):496-501. doi: 10.1080/21678421.2020.1788092. Epub 2020 Jul 9. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32643415 Free article.
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization.
Tazelaar GHP, Boeynaems S, De Decker M, van Vugt JJFA, Kool L, Goedee HS, McLaughlin RL, Sproviero W, Iacoangeli A, Moisse M, Jacquemyn M, Daelemans D, Dekker AM, van der Spek RA, Westeneng HJ, Kenna KP, Assialioui A, Da Silva N; Project MinE ALS Sequencing Consortium; Povedano M, Pardina JSM, Hardiman O, Salachas F, Millecamps S, Vourc'h P, Corcia P, Couratier P, Morrison KE, Shaw PJ, Shaw CE, Pasterkamp RJ, Landers JE, Van Den Bosch L, Robberecht W, Al-Chalabi A, van den Berg LH, Van Damme P, Veldink JH, van Es MA. Tazelaar GHP, et al. Among authors: povedano m. Brain Commun. 2020 May 19;2(2):fcaa064. doi: 10.1093/braincomms/fcaa064. eCollection 2020. Brain Commun. 2020. PMID: 32954321 Free PMC article.
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A; Project MinE ALS Sequencing Consortium; Veldink JH, Kirby J, Snyder MP, Shaw PJ. Cooper-Knock J, et al. Cell Rep. 2020 Dec 1;33(9):108456. doi: 10.1016/j.celrep.2020.108456. Cell Rep. 2020. PMID: 33264630 Free PMC article.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Moisse M, Zwamborn RAJ, van Vugt J, van der Spek R, van Rheenen W, Kenna B, Van Eijk K, Kenna K, Corcia P, Couratier P, Vourc'h P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Chen X, Eberle MA, Al-Chalabi A, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, Robberecht W, van Es M, van den Berg L, Veldink J, Van Damme P; Project MinE Sequencing Consortium. Moisse M, et al. Among authors: povedano m. Ann Neurol. 2021 Apr;89(4):686-697. doi: 10.1002/ana.26009. Epub 2021 Jan 15. Ann Neurol. 2021. PMID: 33389754 Free PMC article.
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Shepheard SR, Parker MD, Cooper-Knock J, Verber NS, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars ESA, Turner MR, Malaspina A, Fratta P, Hewamadduma C, Jenkins TM, McDermott CJ, Wang D, Kirby J, Shaw PJ; Project MINE Consortium; Project MinE. Shepheard SR, et al. J Neurol Neurosurg Psychiatry. 2021 May;92(5):510-518. doi: 10.1136/jnnp-2020-325014. Epub 2021 Feb 14. J Neurol Neurosurg Psychiatry. 2021. PMID: 33589474 Free PMC article.
101 results