Search Results - "Blauw, Hylke"

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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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis by Dekker, Annelot M., Diekstra, Frank P., van der Spek, Rick A. A., Võsa, Urmo, Yang, Jian, Vajda, Alice, Lin, Kuang, Vrabec, Katarina, Koritnik, Blaž, Zidar, Janez, de Visser, Marianne, Leonardis, Lea, Millecamps, Stéphanie, Meininger, Vincent, Mora, Jesus S., Colville, Shuna, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Pittman, Alan, Sidle, Katie, Malaspina, Andrea, Petri, Susanne, Drepper, Carsten, Meyer, Thomas, Ophoff, Roel A., Staats, Kim A., Van Deerlin, Vivianna M., Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Basak, A Nazli, Hamzeiy, Hamid, Parman, Yesim, Meitinger, Thomas, Smith, Bradley N., Lichtner, Peter, Radivojkov-Blagojevic, Milena, Andres, Christian R., Maurel, Cindy, Landwehrmeyer, Bernhard, Brice, Alexis, Payan, Christine A. M., Saker-Delye, Safaa, Tittmann, Lukas, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Tzourio, Christophe, Dartigues, Jean-François, Cereda, Cristina, Uitterlinden, Andre G., Estrada, Karol, Hofman, Albert, Curtis, Charles, Comi, Giacomo P., D'Alfonso, Sandra, Fogh, Isabella, Bertolin, Cinzia, Sorarù, Gianni, Tiloca, Cinzia, Ratti, Antonia, Calvo, Andrea, Brunetti, Maura, van Doormaal, Perry T. C., Arcuti, Simona, Capozzo, Rosa, Lunetta, Christian, Riva, Nilo, Filosto, Massimiliano, Muller, Bernard, Tazelaar, Gijs H. P., Zhang, Katharine, McCann, Emily P., Rowe, Dominic B., Grosskreutz, Julian, Ringer, Thomas, Prell, Tino, Stubendorff, Beatrice, Beghi, Ettore, Pupillo, Elisabetta, Blokhuis, Anna M., Tortelli, Rosanna, Powell, John, Ludolph, Albert C., Van Damme, Philip, Franke, Lude, Brown, Robert H., Sproviero, William, Andersen, Peter M., Silani, Vincenzo, Jones, Ashley R., Pasterkamp, R Jeroen, Breen, Gerome, Al-Chalabi, Ammar, Veldink, Jan H., Kenna, Kevin P., Harschnitz, Oliver, Schellevis, Raymond D., Brands, William J.

“…Copyright © 2016, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. To elucidate the genetic architecture of…”
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Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients by Saris, Christiaan G J, Horvath, Steve, van Vught, Paul W J, van Es, Michael A, Blauw, Hylke M, Fuller, Tova F, Langfelder, Peter, DeYoung, Joseph, Wokke, John H J, Veldink, Jan H, van den Berg, Leonard H, Ophoff, Roel A

“…Amyotrophic Lateral Sclerosis (ALS) is a lethal disorder characterized by progressive degeneration of motor neurons in the brain and spinal cord. Diagnosis is…”
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Genome-wide association study identifies 19p13.3 ( UNC13A ) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis by Giegling, Ina, Lemmens, Robin, Kiemeney, Lambertus A, Ophoff, Roel A, Zwarts, Machiel J, Hofman, Albert, Hendrich, Corinna, Landers, John E, Saris, Christiaan G J, Veldink, Jan H, Melki, Judith, Fumoto, Katsumi, Andersen, Peter M, Birve, Anna, Schreiber, Stefan, de Visser, Marianne, Hardiman, Orla, Uitterlinden, Andre G, Nöthen, Markus M, Meininger, Vincent, Waibel, Stefan, Cichon, Sven, Leigh, P Nigel, Wichmann, H-Erich, Ludolph, Albert C, van Es, Michael A, Vermeulen, Sita H H M, Robberecht, Wim, Meyer, Thomas, Schelhaas, Helenius J, van Vught, Paul W J, Groen, Ewout J N, Rivadeneira, Fernando, Purcell, Shaun, Cronin, Simon, Estrada, Karol, van den Berg, Leonard H, Glass, Jonathan D, Huisman, Mark H B, Slowik, Agnieszka, Wokke, John H J, Pasterkamp, R Jeroen, Brown, Robert H, Shaw, Christopher E, van der Kooi, Anneke J, Tomik, Barbara, van Doormaal, Perry T C, Rujescu, Dan, McLaughlin, Russell L, Dahlberg, Caroline, Al-Chalabi, Ammar, Blauw, Hylke M, Strengman, Eric, Muglia, Pierandrea

“…We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated…”
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Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis by van Es, Michael A., Schelhaas, Helenius J., van Vught, Paul W. J., Ticozzi, Nicola, Andersen, Peter M., Groen, Ewout J. N., Schulte, Claudia, Blauw, Hylke M., Koppers, Max, Diekstra, Frank P., Fumoto, Katsumi, LeClerc, Ashley Lyn, Keagle, Pamela, Bloem, Bastiaan R., Scheffer, Hans, van Nuenen, Bart F. L., van Blitterswijk, Marka, van Rheenen, Wouter, Wills, Anne-Marie, Lowe, Patrick P., Hu, Guo-fu, Yu, Wenhao, Kishikawa, Hiroko, Wu, David, Folkerth, Rebecca D., Mariani, Claudio, Goldwurm, Stefano, Pezzoli, Gianni, Van Damme, Philip, Lemmens, Robin, Dahlberg, Caroline, Birve, Anna, Fernández-Santiago, Rubén, Waibel, Stefan, Klein, Christine, Weber, Markus, van der Kooi, Anneke J., de Visser, Marianne, Verbaan, Dagmar, van Hilten, Jacobus J., Heutink, Peter, Hennekam, Eric A. M., Cuppen, Edwin, Berg, Daniela, Brown Jr, Robert H., Silani, Vincenzo, Gasser, Thomas, Ludolph, Albert C., Robberecht, Wim, Ophoff, Roel A., Veldink, Jan H., Pasterkamp, R. Jeroen, de Bakker, Paul I. W., Landers, John E., van de Warrenburg, Bart P., van den Berg, Leonard H.

“…Objective: Several studies have suggested an increased frequency of variants in the gene encoding angiogenin (ANG) in patients with amyotrophic lateral…”
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Gene-network analysis identifies susceptibility genes related to glycobiology in autism by van der Zwaag, Bert, Franke, Lude, Poot, Martin, Hochstenbach, Ron, Spierenburg, Henk A, Vorstman, Jacob A S, van Daalen, Emma, de Jonge, Maretha V, Verbeek, Nienke E, Brilstra, Eva H, van 't Slot, Ruben, Ophoff, Roel A, van Es, Michael A, Blauw, Hylke M, Veldink, Jan H, Buizer-Voskamp, Jacobine E, Beemer, Frits A, van den Berg, Leonard H, Wijmenga, Cisca, van Amstel, Hans Kristian Ploos, van Engeland, Herman, Burbach, J Peter H, Staal, Wouter G

“…The recent identification of copy-number variation in the human genome has opened up new avenues for the discovery of positional candidate genes underlying…”
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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study by van Es, Michael A, MD, Van Vught, Paul W, MSc, Blauw, Hylke M, MD, Franke, Lude, MSc, Saris, Christiaan G, MD, Andersen, Peter M, MD, Van Den Bosch, Ludo, PhD, de Jong, Sonja W, MD, van 't Slot, Ruben, BSc, Birve, Anna, PhD, Lemmens, Robin, MD, de Jong, Vianney, MD, Baas, Frank, PhD, Schelhaas, Helenius J, MD, Sleegers, Kristel, MD, Van Broeckhoven, Christine, PhD, Wokke, John HJ, MD, Wijmenga, Cisca, PhD, Robberecht, Wim, MD, Veldink, Jan H, MD, Ophoff, Roel A, PhD, van den Berg, Leonard H, MD

“…Summary Background Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised by progressive degeneration of motor neurons in the brain and…”
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Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS by Diekstra, Frank P, Saris, Christiaan G J, van Rheenen, Wouter, Franke, Lude, Jansen, Ritsert C, van Es, Michael A, van Vught, Paul W J, Blauw, Hylke M, Groen, Ewout J N, Horvath, Steve, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G, Robberecht, Wim, Andersen, Peter M, Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E, Brown, Jr, Robert H, Shatunov, Aleksey, Shaw, Christopher E, Leigh, P Nigel, Al-Chalabi, Ammar, Ophoff, Roel A, van den Berg, Leonard H, Veldink, Jan H

“…Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be…”
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Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen by Blauw, Hylke M, MD, Veldink, Jan H, PhD, van Es, Michael A, MD, van Vught, Paul W, PhD, Saris, Christiaan GJ, MD, van der Zwaag, Bert, PhD, Franke, Lude, MSc, Burbach, J Peter H, PhD, Wokke, John H, MD, Ophoff, Roel A, PhD, van den Berg, Leonard H, MD

“…Summary Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the selective death of motor neurons in the brain…”
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Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis by Landers, John E, Melki, Judith, Meininger, Vincent, Glass, Jonathan D, van den Berg, Leonard H, van Es, Michael A, Sapp, Peter C, van Vught, Paul W.J, McKenna-Yasek, Diane M, Blauw, Hylke M, Cho, Ting-Jan, Polak, Meraida, Shi, Lijia, Wills, Anne-Marie, Broom, Wendy J, Ticozzi, Nicola, Silani, Vincenzo, Ozoguz, Aslihan, Rodriguez-Leyva, Ildefonso, Veldink, Jan H, Ivinson, Adrian J, Saris, Christiaan G.J, Hosler, Betsy A, Barnes-Nessa, Alayna, Couture, Nicole, Wokke, John H.J, Kwiatkowski, Thomas J. Jr, Ophoff, Roel A, Cronin, Simon, Hardiman, Orla, Diekstra, Frank P, Leigh, P. Nigel, Shaw, Christopher E, Simpson, Claire L, Hansen, Valerie K, Powell, John F, Corcia, Philippe, Salachas, François, Heath, Simon, Galan, Pilar, Georges, Franck, Horvitz, H. Robert, Lathrop, Mark, Purcell, Shaun, Al-Chalabi, Ammar, Brown, Robert H. Jr

“…Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5…”
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis by Ophoff, Roel A, van den Berg, Leonard H, van Es, Michael A, van Vught, Paul WJ, Blauw, Hylke M, Franke, Lude, Saris, Christiaan GJ, Van Den Bosch, Ludo, de Jong, Sonja W, de Jong, Vianney, Baas, Frank, van't Slot, Ruben, Lemmens, Robin, Schelhaas, Helenius J, Birve, Anna, Sleegers, Kristel, Van Broeckhoven, Christine, Schymick, Jennifer C, Traynor, Bryan J, Wokke, John HJ, Wijmenga, Cisca, Robberecht, Wim, Andersen, Peter M, Veldink, Jan H

“…We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different…”
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NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis by BLAUW, Hylke M, RHEENEN, Wouter Van, CUPPEN, Edwin, PASTERKAMP, R. Jeroen, ROBBERECHT, Wim, LUDOLPH, Albert C, VELDINK, Jan H, DEN BERG, Leonard H. Van, KOPPERS, Max, VAN DAMME, Philip, WAIBEL, Stefan, LEMMENS, Robin, VUGHT, Paul W. J. Van, MEYER, Thomas, SCHULTE, Claudia, GASSER, Thomas

“…Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. Deletions of…”
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Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study by van Doormaal, Perry T.C, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Chiò, Adriano, Calvo, Andrea, Mora, Gabriele, Restagno, Gabriella, Traynor, Bryan J, Birve, Anna, Lemmens, Robin, van Es, Michael A, Saris, Christiaan G.J, Blauw, Hylke M, van Vught, Paul W.J, Groen, Ewout J.N, Corrado, Lucia, Mazzini, Letizia, Del Bo, Roberto, Corti, Stefania, Waibel, Stefan, Meyer, Thomas, Ludolph, Albert C, Goris, An, van Damme, Philip, Robberecht, Wim, Shatunov, Aleksey, Fogh, Isabella, Andersen, Peter M, D'Alfonso, Sandra, Hardiman, Orla, Cronin, Simon, Rujescu, Dan, Al-Chalabi, Ammar, Landers, John E, Silani, Vincenzo, van den Berg, Leonard H, Veldink, Jan H

“…Abstract Sporadic amyotrophic lateral sclerosis is a multifactorial disease of environmental and genetic origin. In a previous large multicenter genome wide…”
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Embolotherapy of pulmonary arteriovenous malformations: long-term results in 112 patients by Mager, Johannes J, Overtoom, Timotheus T C, Blauw, Hylke, Lammers, Jan W J, Westermann, Cornelius J J

“…To evaluate the long-term results of embolotherapy of pulmonary arteriovenous malformations (PAVMs) in a large group of patients. Between July 1988 and August…”
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Copy number variants on the X chromosome in women with primary ovarian insufficiency by Knauff, Erik A.H., M.D., Ph.D, Blauw, Hylke M., M.D, Pearson, Peter L., Ph.D, Kok, Klaas, Ph.D, Wijmenga, Cisca, Ph.D, Veldink, Jan H., M.D., Ph.D, van den Berg, Leonard H., M.D., Ph.D, Bouchard, Philippe, Ph.D, Fauser, Bart C.J.M., M.D., Ph.D, Franke, Lude, Ph.D

“…Objective To investigate whether submicroscopic copy number variants (CNVs) on the X chromosome can be identified in women with primary ovarian insufficiency…”
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Increased paternal age and the influence on burden of genomic copy number variation in the general population by Buizer-Voskamp, Jacobine E., Blauw, Hylke M., Boks, Marco P. M., van Eijk, Kristel R., Veldink, Jan H., Hennekam, Eric A. M., Vorstman, Jacob A. S., Mulder, Flip, Tiemeier, Henning, Uitterlinden, André G., Kiemeney, Lambertus A., van den Berg, Leonard H., Kahn, René S., Sabatti, Chiara, Ophoff, Roel A.

“…Genomic copy number variations (CNVs) and increased parental age are both associated with the risk to develop a variety of clinical neuropsychiatric disorders…”
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Analysis of genome-wide copy number variation in Irish and Dutch ALS populations by Cronin, Simon, Blauw, Hylke M., Veldink, Jan H., van Es, Michael A., Ophoff, Roel A., Bradley, Daniel G., van den Berg, Leonard H., Hardiman, Orla

“…Amyotrophic lateral sclerosis (ALS) is an unrelenting neurodegenerative condition characterized by adult-onset loss of motor neurons. Genetic risk factors have…”
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Detection, Imputation, and Association Analysis of Small Deletions and Null Alleles on Oligonucleotide Arrays by Franke, Lude, de Kovel, Carolien G.F., Aulchenko, Yurii S., Trynka, Gosia, Zhernakova, Alexandra, Hunt, Karen A., Blauw, Hylke M., van den Berg, Leonard H., Ophoff, Roel, Deloukas, Panagiotis, van Heel, David A., Wijmenga, Cisca

“…Copy-number variation (CNV) is a major contributor to human genetic variation. Recently, CNV associations with human disease have been reported. Many…”
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Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle by Saris, Christiaan G. J., Groen, Ewout J. N., Van Vught, Paul W. J., van Es, Michael A., Blauw, Hylke M., Veldink, Jan H., van den Berg, Leonard H.

“…Abstract The exact pathway leading to neuron death and muscle atrophy in amyotrophic lateral sclerosis (ALS) has not yet been elucidated. Gene expression…”
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A large genome scan for rare CNVs in amyotrophic lateral sclerosis by Blauw, Hylke M., Al-Chalabi, Ammar, Andersen, Peter M., van Vught, Paul W.J., Diekstra, Frank P., van Es, Michael A., Saris, Christiaan G.J., Groen, Ewout J.N., van Rheenen, Wouter, Koppers, Max, van't Slot, Ruben, Strengman, Eric, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Kiemeney, Lambertus A., Vermeulen, Sita H.M., Birve, Anna, Waibel, Stefan, Meyer, Thomas, Cronin, Simon, McLaughlin, Russell L., Hardiman, Orla, Sapp, Peter C., Tobin, Martin D., Wain, Louise V., Tomik, Barbara, Slowik, Agnieszka, Lemmens, Robin, Rujescu, Dan, Schulte, Claudia, Gasser, Thomas, Brown, Robert H., Landers, John E., Robberecht, Wim, Ludolph, Albert C., Ophoff, Roel A., Veldink, Jan H., van den Berg, Leonard H.

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide…”
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