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Page 1
Clinical trials in pediatric ALS: a TRICALS feasibility study.
Kliest T, Van Eijk RPA, Al-Chalabi A, Albanese A, Andersen PM, Amador MDM, BrÅthen G, Brunaud-Danel V, Brylev L, Camu W, De Carvalho M, Cereda C, Cetin H, Chaverri D, Chiò A, Corcia P, Couratier P, De Marchi F, Desnuelle C, Van Es MA, Esteban J, Filosto M, GarcÍa Redondo A, Grosskreutz J, Hanemann CO, HolmØy T, HØyer H, Ingre C, Koritnik B, Kuzma-Kozakiewicz M, Lambert T, Leigh PN, Lunetta C, Mandrioli J, Mcdermott CJ, Meyer T, Mora JS, Petri S, Povedano M, Reviers E, Riva N, Roes KCB, Rubio MÁ, Salachas F, Sarafov S, SorarÙ G, Stevic Z, Svenstrup K, MØller AT, Turner MR, Van Damme P, Van Leeuwen LAG, Varona L, VÁzquez Costa JF, Weber M, Hardiman O, Van Den Berg LH. Kliest T, et al. Among authors: mora js. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Nov;23(7-8):481-488. doi: 10.1080/21678421.2021.2024856. Epub 2022 Feb 16. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 35172656 Free PMC article.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group; Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A. García-Redondo A, et al. Among authors: mora js. Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22936364
Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS.
Oeckl P, Jardel C, Salachas F, Lamari F, Andersen PM, Bowser R, de Carvalho M, Costa J, van Damme P, Gray E, Grosskreutz J, Hernández-Barral M, Herukka SK, Huss A, Jeromin A, Kirby J, Kuzma-Kozakiewicz M, Amador Mdel M, Mora JS, Morelli C, Muckova P, Petri S, Poesen K, Rhode H, Rikardsson AK, Robberecht W, Rodríguez Mahillo AI, Shaw P, Silani V, Steinacker P, Turner MR, Tüzün E, Yetimler B, Ludolph AC, Otto M. Oeckl P, et al. Among authors: mora js. Amyotroph Lateral Scler Frontotemporal Degener. 2016 Jul-Aug;17(5-6):404-13. doi: 10.3109/21678421.2016.1167913. Epub 2016 Apr 11. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 27415180
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium; Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE. Kenna KP, et al. Among authors: mora g, mora js. Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455347 Free PMC article.
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, … See abstract for full author list ➔ van Rheenen W, et al. Among authors: mora js. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium. McLaughlin RL, et al. Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774. Nat Commun. 2017. PMID: 28322246 Free PMC article.
Reconsidering the causality of TIA1 mutations in ALS.
van der Spek RA, van Rheenen W, Pulit SL, Kenna KP, Ticozzi N, Kooyman M, Mclaughlin RL, Moisse M, van Eijk KR, van Vugt JJFA, Iacoangeli A, Andersen P, Nazli Basak A, Blair I, de Carvalho M, Chio A, Corcia P, Couratier P, Drory VE, Glass JD, Hardiman O, Mora JS, Morrison KE, Mitne-Neto M, Robberecht W, Shaw PJ, Panadés MP, van Damme P, Silani V, Gotkine M, Weber M, van Es MA, Landers JE, Al-Chalabi A, van den Berg LH, Veldink JH; PROJECT MINE ALS SEQUENCING CONSORTIUM. van der Spek RA, et al. Among authors: mora js. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):1-3. doi: 10.1080/21678421.2017.1413118. Epub 2017 Dec 13. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29235362 Free PMC article. No abstract available.
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