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Your search keyword '"Van Es, Michael A."' showing total 14 results
Start Over Author "Van Es, Michael A." Journal neurobiology of aging
14 results on '"Van Es, Michael A."'

1. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Author

Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M, van den Berg, Leonard H., Veldink, Jan H., and van Es, Michael A.

Published
2023
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2. Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Author

Tazelaar, Gijs H.P., Dekker, Annelot M., van Vugt, Joke J.F.A., van der Spek, Rick A., Westeneng, Henk-Jan, Kool, Lindy J.B.G., Kenna, Kevin P., van Rheenen, Wouter, Pulit, Sara L., McLaughlin, Russell L., Sproviero, William, Iacoangeli, Alfredo, Hübers, Annemarie, Brenner, David, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Panadés, Monica Povedano, Mora Pardina, Jesus S., Glass, Jonathan D., Hardiman, Orla, Al-Chalabi, Ammar, van Damme, Philip, Robberecht, Wim, Landers, John E., Ludolph, Albert C., Weishaupt, Jochen H., van den Berg, Leonard H., Veldink, Jan H., and van Es, Michael A.

Published
2019
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3. Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

Author

Bogaert, Elke, Goris, An, Van Damme, Philip, Geelen, Veerle, Lemmens, Robin, van Es, Michael A., van den Berg, Leonard H., Sleegers, Kristel, Verpoorten, Nathalie, Timmerman, Vincent, De Jonghe, Peter, Van Broeckhoven, Christine, Traynor, Bryan J., Landers, John E., Brown, Robert H., Jr., Glass, Jonathan D., Al-Chalabi, Ammar, Shaw, Christopher E., Birve, Anna, Andersen, Peter M., Slowik, Agnieszka, Tomik, Barbara, Melki, Judith, Robberecht, Wim, and Van Den Bosch, Ludo

Published
2012
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8. Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

Author

van Doormaal, Perry T.C., primary, Ticozzi, Nicola, additional, Gellera, Cinzia, additional, Ratti, Antonia, additional, Taroni, Franco, additional, Chiò, Adriano, additional, Calvo, Andrea, additional, Mora, Gabriele, additional, Restagno, Gabriella, additional, Traynor, Bryan J., additional, Birve, Anna, additional, Lemmens, Robin, additional, van Es, Michael A., additional, Saris, Christiaan G.J., additional, Blauw, Hylke M., additional, van Vught, Paul W.J., additional, Groen, Ewout J.N., additional, Corrado, Lucia, additional, Mazzini, Letizia, additional, Del Bo, Roberto, additional, Corti, Stefania, additional, Waibel, Stefan, additional, Meyer, Thomas, additional, Ludolph, Albert C., additional, Goris, An, additional, van Damme, Philip, additional, Robberecht, Wim, additional, Shatunov, Aleksey, additional, Fogh, Isabella, additional, Andersen, Peter M., additional, D'Alfonso, Sandra, additional, Hardiman, Orla, additional, Cronin, Simon, additional, Rujescu, Dan, additional, Al-Chalabi, Ammar, additional, Landers, John E., additional, Silani, Vincenzo, additional, van den Berg, Leonard H., additional, and Veldink, Jan H., additional

Published
2014
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9. No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy

Author

Seelen, Meinie, primary, Visser, Anne E., additional, Overste, Daniel J., additional, Kim, Hong J., additional, Palud, A., additional, Wong, Tsz H., additional, van Swieten, John C., additional, Scheltens, Philip, additional, Voermans, Nicol C., additional, Baas, Frank, additional, de Jong, J.M.B.V., additional, van der Kooi, Anneke J., additional, de Visser, Marianne, additional, Veldink, Jan H., additional, Taylor, J. Paul, additional, Van Es, Michael A., additional, and van den Berg, Leonard H., additional

Published
2014
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11. Mutational analysis of TARDBP in Parkinson's disease

Author

van Blitterswijk, Marka, primary, van Es, Michael A., additional, Verbaan, Dagmar, additional, van Hilten, Jacobus J., additional, Scheffer, Hans, additional, van de Warrenburg, Bart P., additional, Veldink, Jan H., additional, and van den Berg, Leonard H., additional

Published
2013
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12. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Author

van Rheenen, Wouter, primary, Diekstra, Frank P., additional, van Doormaal, Perry T.C., additional, Seelen, Meinie, additional, Kenna, Kevin, additional, McLaughlin, Russell, additional, Shatunov, Aleksey, additional, Czell, David, additional, van Es, Michael A., additional, van Vught, Paul W.J., additional, van Damme, Philip, additional, Smith, Bradley N., additional, Waibel, Stefan, additional, Schelhaas, H. Jurgen, additional, van der Kooi, Anneke J., additional, de Visser, Marianne, additional, Weber, Markus, additional, Robberecht, Wim, additional, Hardiman, Orla, additional, Shaw, Pamela J., additional, Shaw, Christopher E., additional, Morrison, Karen E., additional, Al-Chalabi, Ammar, additional, Andersen, Peter M., additional, Ludolph, Albert C., additional, Veldink, Jan H., additional, and van den Berg, Leonard H., additional

Published
2013
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14. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Author

Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY, Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, and Zheng JG

Subjects
Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis epidemiology, Europe epidemiology, Female, Genotype, Humans, Male, Meta-Analysis as Topic, Middle Aged, Polymorphism, Single Nucleotide, United States epidemiology, Age of Onset, Amyotrophic Lateral Sclerosis genetics, Chromosomes, Human, Pair 1 genetics, Genetic Predisposition to Disease
Abstract

Amyotrophic lateral sclerosis (ALS) is the third most common adult-onset neurodegenerative disease. Individuals with ALS rapidly progress to paralysis and die from respiratory failure within 3 to 5 years after symptom onset. Epidemiological factors explain only a modest amount of the risk for ALS. However, there is growing evidence of a strong genetic component to both familial and sporadic ALS risk. The International Consortium on Amyotrophic Lateral Sclerosis Genetics was established to bring together existing genome-wide association cohorts and identify sporadic ALS susceptibility and age at symptom onset loci. Here, we report the results of a meta-analysis of the International Consortium on Amyotrophic Lateral Sclerosis Genetics genome-wide association samples, consisting of 4243 ALS cases and 5112 controls from 13 European ancestry cohorts from across the United States and Europe. Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)). Six genomic regions were associated with age at onset of ALS. The strongest evidence for an age of onset locus was observed at 1p34.1, with comparable evidence at rs3011225 (R(2)(partial) = 0.0061; p = 6.59 × 10(-8)) and rs803675 (R(2)(partial) = 0.0060; p = 6.96 × 10(-8)). These associations were consistent across all 13 cohorts. For rs3011225, individuals with at least 1 copy of the minor allele had an earlier average age of onset of over 2 years. Identifying the underlying pathways influencing susceptibility to and age at onset of ALS may provide insight into the pathogenic mechanisms and motivate new pharmacologic targets for this fatal neurodegenerative disease., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Published
2013
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