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49 results

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Page 1
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, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: mora js. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Enfermedad granulomatosa hepática.
Ortiz-Brizuela E, Azamar-Llamas D, Mora JD, Guerrero-Castillo JI, Martínez-Benítez B, Sifuentes-Osornio J. Ortiz-Brizuela E, et al. Among authors: mora jd. Gac Med Mex. 2019;155(3):266-275. doi: 10.24875/GMM.18004327. Gac Med Mex. 2019. PMID: 31219474 Free article. Review.
Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial.
Mora JS, Genge A, Chio A, Estol CJ, Chaverri D, Hernández M, Marín S, Mascias J, Rodriguez GE, Povedano M, Paipa A, Dominguez R, Gamez J, Salvado M, Lunetta C, Ballario C, Riva N, Mandrioli J, Moussy A, Kinet JP, Auclair C, Dubreuil P, Arnold V, Mansfield CD, Hermine O; AB10015 STUDY GROUP. Mora JS, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Feb;21(1-2):5-14. doi: 10.1080/21678421.2019.1632346. Epub 2019 Jul 7. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 31280619 Free article. Clinical Trial.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 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.
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: mora js. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS.
Shefner JM, Andrews JA, Genge A, Jackson C, Lechtzin N, Miller TM, Cockroft BM, Meng L, Wei J, Wolff AA, Malik FI, Bodkin C, Brooks BR, Caress J, Dionne A, Fee D, Goutman SA, Goyal NA, Hardiman O, Hayat G, Heiman-Patterson T, Heitzman D, Henderson RD, Johnston W, Karam C, Kiernan MC, Kolb SJ, Korngut L, Ladha S, Matte G, Mora JS, Needham M, Oskarsson B, Pattee GL, Pioro EP, Pulley M, Quan D, Rezania K, Schellenberg KL, Schultz D, Shoesmith C, Simmons Z, Statland J, Sultan S, Swenson A, Berg LHVD, Vu T, Vucic S, Weiss M, Whyte-Rayson A, Wymer J, Zinman L, Rudnicki SA. Shefner JM, et al. Among authors: mora js. Amyotroph Lateral Scler Frontotemporal Degener. 2021 May;22(3-4):287-299. doi: 10.1080/21678421.2020.1822410. Epub 2020 Sep 24. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 32969758 Free PMC article. Clinical Trial.
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Al Khleifat A, Iacoangeli A, Jones AR, van Vugt JJFA, Moisse M, Shatunov A, Zwamborn RAJ, van der Spek RAA, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Al Khleifat A, et al. Among authors: mora js. Front Cell Neurosci. 2022 Dec 15;16:1050596. doi: 10.3389/fncel.2022.1050596. eCollection 2022. Front Cell Neurosci. 2022. PMID: 36589292 Free PMC article.
Respiratory measures in amyotrophic lateral sclerosis.
Lechtzin N, Cudkowicz ME, de Carvalho M, Genge A, Hardiman O, Mitsumoto H, Mora JS, Shefner J, Van den Berg LH, Andrews JA. Lechtzin N, et al. Among authors: mora js. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):321-330. doi: 10.1080/21678421.2018.1452945. Epub 2018 Mar 23. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29566571
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.
49 results