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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: middelkoop b. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M; Project MinE ALS Sequencing Consortium; Ince PG, Hautbergue GM, McDermott CJ, Kirby J, Shaw PJ. Cooper-Knock J, et al. Front Mol Neurosci. 2017 Nov 9;10:370. doi: 10.3389/fnmol.2017.00370. eCollection 2017. Front Mol Neurosci. 2017. PMID: 29170628 Free PMC article.
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model.
Westeneng HJ, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A, Martin S, McDermott CJ, Thompson AG, Pinto S, Kobeleva X, Rosenbohm A, Stubendorff B, Sommer H, Middelkoop BM, Dekker AM, van Vugt JJFA, van Rheenen W, Vajda A, Heverin M, Kazoka M, Hollinger H, Gromicho M, Körner S, Ringer TM, Rödiger A, Gunkel A, Shaw CE, Bredenoord AL, van Es MA, Corcia P, Couratier P, Weber M, Grosskreutz J, Ludolph AC, Petri S, de Carvalho M, Van Damme P, Talbot K, Turner MR, Shaw PJ, Al-Chalabi A, Chiò A, Hardiman O, Moons KGM, Veldink JH, van den Berg LH. Westeneng HJ, et al. Among authors: middelkoop bm. Lancet Neurol. 2018 May;17(5):423-433. doi: 10.1016/S1474-4422(18)30089-9. Epub 2018 Mar 26. Lancet Neurol. 2018. PMID: 29598923 Free article.
Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials.
van Eijk RPA, Nikolakopoulos S, Roes KCB, Middelkoop BM, Ferguson TA, Shaw PJ, Leigh PN, Al-Chalabi A, Eijkemans MJC, van den Berg LH. van Eijk RPA, et al. Among authors: middelkoop bm. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1331-1337. doi: 10.1136/jnnp-2019-320998. Epub 2019 Jul 10. J Neurol Neurosurg Psychiatry. 2019. PMID: 31292200 Free PMC 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. Brain Commun. 2020 May 19;2(2):fcaa064. doi: 10.1093/braincomms/fcaa064. eCollection 2020. Brain Commun. 2020. PMID: 32954321 Free PMC article.
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.
Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4.
Stam M, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Habets LE, van Eijk RPA, Middelkoop BM, Goedee HS, de Groot JF, Roes KCB, Schoenmakers MAGC, Nieuwenhuis EES, Cuppen I, van den Berg LH, Wadman RI, van der Pol WL. Stam M, et al. Among authors: middelkoop bm. Brain Commun. 2022 Dec 9;5(1):fcac324. doi: 10.1093/braincomms/fcac324. eCollection 2023. Brain Commun. 2022. PMID: 36632180 Free PMC article.
Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe.
Pajouheshnia R, Gini R, Gutierrez L, Swertz MA, Hyde E, Sturkenboom M, Arana A, Franzoni C, Ehrenstein V, Roberto G, Gil M, Maciá MA, Schäfer W, Haug U, Thurin NH, Lassalle R, Droz-Perroteau C, Zaccagnino S, Busto MP, Middelkoop B, Gembert K, Sanchez-Saez F, Rodriguez-Bernal C, Sanfélix-Gimeno G, Hurtado I, Acosta MB, Poblador-Plou B, Carmona-Pírez J, Gimeno-Miguel A, Prados-Torres A, Schultze A, Jansen E, Herings R, Kuiper J, Locatelli I, Jazbar J, Žerovnik Š, Kos M, Smit S, Lind S, Metspalu A, Simou S, Hedenmalm K, Cochino A, Alcini P, Kurz X, Perez-Gutthann S. Pajouheshnia R, et al. Among authors: middelkoop b. Pharmacoepidemiol Drug Saf. 2024 Aug;33(8):e5871. doi: 10.1002/pds.5871. Pharmacoepidemiol Drug Saf. 2024. PMID: 39145406
76 results