Search Results - "Veldink, Jan H"

Amyotrophic lateral sclerosis by van Es, Michael A, MD, Hardiman, Orla, Prof, Chio, Adriano, Prof, Al-Chalabi, Ammar, Prof, Pasterkamp, R Jeroen, Prof, Veldink, Jan H, Prof, van den Berg, Leonard H, Prof

“…Summary Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in the brain and spinal cord. This neurodegenerative syndrome…”
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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions by Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A

“…Abstract Summary We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to…”
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Detection of long repeat expansions from PCR-free whole-genome sequence data by Dolzhenko, Egor, van Vugt, Joke J F A, Shaw, Richard J, Bekritsky, Mitchell A, van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S, Rajan, Vani, Lajoie, Bryan R, Johnson, Nathan H, Kingsbury, Zoya, Humphray, Sean J, Schellevis, Raymond D, Brands, William J, Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H P, van Es, Michael A, McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J, Morrison, Karen, Shaw, Pamela J, Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S, Housman, David E, Ng, Christopher W, Li, Alina L, Taft, Ryan J, van den Berg, Leonard H, Bentley, David R, Veldink, Jan H, Eberle, Michael A

“…Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is…”
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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data by Dolzhenko, Egor, Bennett, Mark F, Richmond, Phillip A, Trost, Brett, Chen, Sai, van Vugt, Joke J F A, Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G, Gross, Andrew M, Lajoie, Bryan R, Taft, Ryan J, Wasserman, Wyeth W, Scherer, Stephen W, Veldink, Jan H, Bentley, David R, Yuen, Ryan K C, Bahlo, Melanie, Eberle, Michael A

“…Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods…”
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Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study by Al-Chalabi, Ammar, Prof, Calvo, Andrea, MD, Chio, Adriano, Prof, Colville, Shuna, MPH, Ellis, Cathy M, PhD, Hardiman, Orla, Prof, Heverin, Mark, MSc, Howard, Robin S, PhD, Huisman, Mark H B, MD, Keren, Noa, MBBS, Leigh, P Nigel, Prof, Mazzini, Letizia, MD, Mora, Gabriele, MD, Orrell, Richard W, MD, Rooney, James, MSc, Scott, Kirsten M, MBBS, Scotton, William J, MBioch, Seelen, Meinie, MD, Shaw, Christopher E, Prof, Sidle, Katie S, PhD, Swingler, Robert, MD, Tsuda, Miho, MBChB, Veldink, Jan H, Prof, Visser, Anne E, MD, van den Berg, Leonard H, Prof, Pearce, Neil, Prof

“…Summary Background Amyotrophic lateral sclerosis shares characteristics with some cancers, such as onset being more common in later life, progression usually…”
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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis by Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Moll, Tobias, Marshall, Jack N.G., Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A., Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R., Eitan, Chen, Hornstein, Eran, Kenna, Kevin P., Blair, Ian, Wray, Naomi R., Kiernan, Matthew, Mitne Neto, Miguel, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Nazli A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Veldink, Jan H., Ferraiuolo, Laura, Shaw, Pamela J., Snyder, Michael P.

“…Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death. Despite heritability estimates of 52%, genome-wide association…”
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The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies by van Coevorden-Hameete, Marleen H, de Bruijn, Marienke A A M, de Graaff, Esther, Bastiaansen, Danielle A E M, Schreurs, Marco W J, Demmers, Jeroen A A, Ramberger, Melanie, Hulsenboom, Esther S P, Nagtzaam, Mariska M P, Boukhrissi, Sanae, Veldink, Jan H, Verschuuren, Jan J G M, Hoogenraad, Casper C, Sillevis Smitt, Peter A E, Titulaer, Maarten J

“…In this study we report the clinical features of 32 patients with gamma aminobutyric acid B receptor (GABABR) antibodies, identify additional autoantibodies in…”
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Blood lipids influence DNA methylation in circulating cells by Dekkers, Koen F, van Iterson, Maarten, Slieker, Roderick C, Moed, Matthijs H, Bonder, Marc Jan, van Galen, Michiel, Mei, Hailiang, Zhernakova, Daria V, van den Berg, Leonard H, Deelen, Joris, van Dongen, Jenny, van Heemst, Diana, Hofman, Albert, Hottenga, Jouke J, van der Kallen, Carla J H, Schalkwijk, Casper G, Stehouwer, Coen D A, Tigchelaar, Ettje F, Uitterlinden, André G, Willemsen, Gonneke, Zhernakova, Alexandra, Franke, Lude, 't Hoen, Peter A C, Jansen, Rick, van Meurs, Joyce, Boomsma, Dorret I, van Duijn, Cornelia M, van Greevenbroek, Marleen M J, Veldink, Jan H, Wijmenga, Cisca, van Zwet, Erik W, Slagboom, P Eline, Jukema, J Wouter, Heijmans, Bastiaan T

“…Cells can be primed by external stimuli to obtain a long-term epigenetic memory. We hypothesize that long-term exposure to elevated blood lipids can prime…”
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Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects by van Eijk, Kristel R, de Jong, Simone, Boks, Marco P M, Langeveld, Terry, Colas, Fabrice, Veldink, Jan H, de Kovel, Carolien G F, Janson, Esther, Strengman, Eric, Langfelder, Peter, Kahn, René S, van den Berg, Leonard H, Horvath, Steve, Ophoff, Roel A

“…The predominant model for regulation of gene expression through DNA methylation is an inverse association in which increased methylation results in decreased…”
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Genomic signals of migration and continuity in Britain before the Anglo-Saxons by Martiniano, Rui, Caffell, Anwen, Holst, Malin, Hunter-Mann, Kurt, Montgomery, Janet, Müldner, Gundula, McLaughlin, Russell L., Teasdale, Matthew D., van Rheenen, Wouter, Veldink, Jan H., van den Berg, Leonard H., Hardiman, Orla, Carroll, Maureen, Roskams, Steve, Oxley, John, Morgan, Colleen, Thomas, Mark G., Barnes, Ian, McDonnell, Christine, Collins, Matthew J., Bradley, Daniel G.

“…The purported migrations that have formed the peoples of Britain have been the focus of generations of scholarly controversy. However, this has not benefited…”
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Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis by Lees, John A., Ferwerda, Bart, Kremer, Philip H. C., Wheeler, Nicole E., Serón, Mercedes Valls, Croucher, Nicholas J., Gladstone, Rebecca A., Bootsma, Hester J., Rots, Nynke Y., Wijmega-Monsuur, Alienke J., Sanders, Elisabeth A. M., Trzciński, Krzysztof, Wyllie, Anne L., Zwinderman, Aeilko H., van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Harboe, Zitta B., Lundbo, Lene F., de Groot, Lisette C. P. G. M., van Schoor, Natasja M., van der Velde, Nathalie, Ängquist, Lars H., Sørensen, Thorkild I. A., Nohr, Ellen A., Mentzer, Alexander J., Mills, Tara C., Knight, Julian C., du Plessis, Mignon, Nzenze, Susan, Weiser, Jeffrey N., Parkhill, Julian, Madhi, Shabir, Benfield, Thomas, von Gottberg, Anne, van der Ende, Arie, Brouwer, Matthijs C., Barrett, Jeffrey C., Bentley, Stephen D., van de Beek, Diederik

“…Streptococcus pneumoniae is a common nasopharyngeal colonizer, but can also cause life-threatening invasive diseases such as empyema, bacteremia and…”
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EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans by Van Hoecke, Annelies, Schoonaert, Lies, Lemmens, Robin, Timmers, Mieke, Staats, Kim A, Laird, Angela S, Peeters, Elke, Philips, Thomas, Goris, An, Dubois, Bénédicte, Andersen, Peter M, Al-Chalabi, Ammar, Thijs, Vincent, Turnley, Ann M, van Vught, Paul W, Veldink, Jan H, Hardiman, Orla, Van Den Bosch, Ludo, Gonzalez-Perez, Paloma, Van Damme, Philip, Brown, Robert H, van den Berg, Leonard H, Robberecht, Wim

“…Epha4 is a receptor involved in axonal repulsion. Wim Robberecht and his colleagues report that genetic or pharmacological inhibition of Epha4 is protective in…”
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Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis by Verstraete, Esther, Veldink, Jan H., van den Berg, Leonard H., van den Heuvel, Martijn P.

“…Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease, which primarily targets the motor system. The structural integrity of the motor…”
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Functional genomics analysis identifies T and NK cell activation as a driver of epigenetic clock progression by Jonkman, Thomas H, Dekkers, Koen F, Slieker, Roderick C, Grant, Crystal D, Ikram, M Arfan, van Greevenbroek, Marleen M J, Franke, Lude, Veldink, Jan H, Boomsma, Dorret I, Slagboom, P Eline, Consortium, B I O S, Heijmans, Bastiaan T

“…Epigenetic clocks use DNA methylation (DNAm) levels of specific sets of CpG dinucleotides to accurately predict individual chronological age. A popular…”
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Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders by Nabais, Marta F, Laws, Simon M, Lin, Tian, Vallerga, Costanza L, Armstrong, Nicola J, Blair, Ian P, Kwok, John B, Mather, Karen A, Mellick, George D, Sachdev, Perminder S, Wallace, Leanne, Henders, Anjali K, Zwamborn, Ramona A J, Hop, Paul J, Lunnon, Katie, Pishva, Ehsan, Roubroeks, Janou A Y, Soininen, Hilkka, Tsolaki, Magda, Mecocci, Patrizia, Lovestone, Simon, Kłoszewska, Iwona, Vellas, Bruno, Furlong, Sarah, Garton, Fleur C, Henderson, Robert D, Mathers, Susan, McCombe, Pamela A, Needham, Merrilee, Ngo, Shyuan T, Nicholson, Garth, Pamphlett, Roger, Rowe, Dominic B, Steyn, Frederik J, Williams, Kelly L, Anderson, Tim J, Bentley, Steven R, Dalrymple-Alford, John, Fowder, Javed, Gratten, Jacob, Halliday, Glenda, Hickie, Ian B, Kennedy, Martin, Lewis, Simon J G, Montgomery, Grant W, Pearson, John, Pitcher, Toni L, Silburn, Peter, Zhang, Futao, Visscher, Peter M, Yang, Jian, Stevenson, Anna J, Hillary, Robert F, Marioni, Riccardo E, Harris, Sarah E, Deary, Ian J, Jones, Ashley R, Shatunov, Aleksey, Iacoangeli, Alfredo, van Rheenen, Wouter, van den Berg, Leonard H, Shaw, Pamela J, Shaw, Cristopher E, Morrison, Karen E, Al-Chalabi, Ammar, Veldink, Jan H, Hannon, Eilis, Mill, Jonathan, Wray, Naomi R, McRae, Allan F

“…People with neurodegenerative disorders show diverse clinical syndromes, genetic heterogeneity, and distinct brain pathological changes, but studies report…”
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Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study by Verstraete, Esther, van den Heuvel, Martijn P, Veldink, Jan H, Blanken, Niels, Mandl, René C, Hulshoff Pol, Hilleke E, van den Berg, Leonard H

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by motor neuron degeneration. How this disease affects the central motor…”
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Dutch population structure across space, time and GWAS design by Byrne, Ross P., van Rheenen, Wouter, van den Berg, Leonard H., Veldink, Jan H., McLaughlin, Russell L.

“…Previous genetic studies have identified local population structure within the Netherlands; however their resolution is limited by use of unlinked markers and…”
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Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study by van Rheenen, Wouter, Diekstra, Frank P, Harschnitz, Oliver, Westeneng, Henk-Jan, van Eijk, Kristel R, Saris, Christiaan G J, Groen, Ewout J N, van Es, Michael A, Blauw, Hylke M, van Vught, Paul W J, Veldink, Jan H, van den Berg, Leonard H

“…The biological pathways involved in amyotrophic lateral sclerosis (ALS) remain elusive and diagnostic decision-making can be challenging. Gene expression…”
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Genetic correlation between amyotrophic lateral sclerosis and schizophrenia by McLaughlin, Russell L., Schijven, Dick, van Rheenen, Wouter, van Eijk, Kristel R., O’Brien, Margaret, Kahn, René S., Ophoff, Roel A., Goris, An, Bradley, Daniel G., Al-Chalabi, Ammar, van den Berg, Leonard H., Luykx, Jurjen J., Hardiman, Orla, Veldink, Jan H.

“…We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an…”
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Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis by Verstraete, Esther, Veldink, Jan H, Hendrikse, Jeroen, Schelhaas, H Jurgen, van den Heuvel, Martijn P, van den Berg, Leonard H

“…ObjectivesAmyotrophic lateral sclerosis (ALS) is a fatal disease characterised by combined upper and lower motor neuron degeneration. An early and accurate…”
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