Search Results - "Van Vught, Paul W J"

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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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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Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration by Simpson, Claire L., Lemmens, Robin, Miskiewicz, Katarzyna, Broom, Wendy J., Hansen, Valerie K., van Vught, Paul W.J., Landers, John E., Sapp, Peter, Van Den Bosch, Ludo, Knight, Joanne, Neale, Benjamin M., Turner, Martin R., Veldink, Jan H., Ophoff, Roel A., Tripathi, Vineeta B., Beleza, Ana, Shah, Meera N., Proitsi, Petroula, Van Hoecke, Annelies, Carmeliet, Peter, Horvitz, H. Robert, Leigh, P. Nigel, Shaw, Christopher E., van den Berg, Leonard H., Sham, Pak C., Powell, John F., Verstreken, Patrik, Brown, Robert H., Robberecht, Wim, Al-Chalabi, Ammar

“…Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within…”
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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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UNC13A is a modifier of survival in amyotrophic lateral sclerosis by Diekstra, Frank P, van Vught, Paul W.J, van Rheenen, Wouter, Koppers, Max, Pasterkamp, R. Jeroen, van Es, Michael A, Schelhaas, Helenius J, de Visser, Marianne, Robberecht, Wim, Van Damme, Philip, Andersen, Peter M, van den Berg, Leonard H, Veldink, Jan H

“…Abstract A large genome-wide screen in patients with sporadic amyotrophic lateral sclerosis (ALS) showed that the common variant rs12608932 in gene UNC13A was…”
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VCP mutations in familial and sporadic amyotrophic lateral sclerosis by Koppers, Max, van Blitterswijk, Marka M, Vlam, Lotte, Rowicka, Paulina A, van Vught, Paul W.J, Groen, Ewout J.N, Spliet, Wim G.M, Engelen-Lee, JooYeon, Schelhaas, Helenius J, de Visser, Marianne, van der Kooi, Anneke J, van der Pol, W-Ludo, Pasterkamp, R. Jeroen, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Mutations in the valosin-containing protein (VCP) gene were recently reported to be the cause of 1%–2% of familial amyotrophic lateral sclerosis (ALS)…”
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Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients by van Blitterswijk, Marka, van Vught, Paul W.J, van Es, Michael A, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Optineurin ( OPTN ) mutations have been reported in a cohort of Japanese patients with familial (FALS) and sporadic (SALS) amyotrophic lateral…”
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FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands by Groen, Ewout J N, van Es, Michael A, van Vught, Paul W J, Spliet, Wim G M, van Engelen-Lee, Jooyeon, de Visser, Marianne, Wokke, John H J, Schelhaas, Helenius J, Ophoff, Roel A, Fumoto, Katsumi, Pasterkamp, R Jeroen, Dooijes, Dennis, Cuppen, Edwin, Veldink, Jan H, van den Berg, Leonard H

“…To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical…”
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H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis by van Rheenen, Wouter, Diekstra, Frank P, van Doormaal, Perry T.C, Seelen, Meinie, Kenna, Kevin, McLaughlin, Russell, Shatunov, Aleksey, Czell, David, van Es, Michael A, van Vught, Paul W.J, van Damme, Philip, Smith, Bradley N, Waibel, Stefan, Schelhaas, H. Jurgen, van der Kooi, Anneke J, de Visser, Marianne, Weber, Markus, Robberecht, Wim, Hardiman, Orla, Shaw, Pamela J, Shaw, Christopher E, Morrison, Karen E, Al-Chalabi, Ammar, Andersen, Peter M, Ludolph, Albert C, Veldink, Jan H, van den Berg, Leonard H

“…Abstract The H63D polymorphism in HFE has frequently been associated with susceptibility to amyotrophic lateral sclerosis (ALS). Regarding the role of HFE in…”
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Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3 by Koppers, Max, Groen, Ewout J.N, van Vught, Paul W.J, van Rheenen, Wouter, Witteveen, Esther, van Es, Michael A, Pasterkamp, R. Jeroen, van den Berg, Leonard H, Veldink, Jan H

“…Abstract Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease that causes progressive muscle weakness, eventually resulting in death…”
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P413L CHGB is not associated with ALS susceptibility or age at onset in a Dutch population by van Vught, Paul W.J, Veldink, Jan H, van den Berg, Leonard H

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Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients by van Blitterswijk, Marka, Blokhuis, Anna, van Es, Michael A, van Vught, Paul W.J, Rowicka, Paulina A, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Polymorphisms in the paraoxonase family ( PON ) have been reported in patients with amyotrophic lateral sclerosis (ALS), but a recent meta-analysis…”
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The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population by Sutedja, Nadia A, Sinke, Richard J, Van Vught, Paul W J, Van der Linden, Michiel W, Wokke, John H J, Van Duijn, Cornelia M, Njajou, Omer T, Van der Schouw, Yvonne T, Veldink, Jan H, Van den Berg, Leonard H

“…Mutations in HFE, a gene defect that can disrupt iron metabolism, have been implicated in increasing the risk of developing amyotrophic lateral sclerosis…”
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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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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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SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis by Bos, Jeroen W., Groen, Ewout J.N., Wadman, Renske I., Curial, Chantall A.D., Molleman, Naomi N., Zegers, Marinka, van Vught, Paul W.J., Snetselaar, Reinier, Vijzelaar, Raymon, van der Pol, W. Ludo, van den Berg, Leonard H.

“…To assess the association between copy number (CN) variation in the survival motor neuron ( ) locus and multifocal motor neuropathy (MMN), progressive muscular…”
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Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy by Vlam, Lotte, Schelhaas, Helenius J, van Blitterswijk, Marka, van Vught, Paul W J, de Visser, Marianne, van der Kooi, Anneke J, van der Pol, W-Ludo, van den Berg, Leonard H

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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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Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes by Vlam, Lotte, Cats, Elisabeth A., Seelen, Meinie, van Vught, Paul W.J., van den Berg, Leonard H., van der Pol, W-Ludo

“…The contribution of genetic heterogeneity to the pathogenesis of multifocal motor neuropathy (MMN) has not been elucidated. We investigated frequencies of…”
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Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis by Van Vught, Paul W.J, Van Wijk, Joost, Bradley, Ted E.J, Plasmans, Dagmar, Jakobs, Marja E, Veldink, Jan H, de Jong, J.M.B.Vianney, Van den Berg, Leonard H, Baas, Frank

“…Abstract Growth factors, such as ciliary neurotrophic factor (CNTF), have been implicated in neuronal survival and proliferation. About 2% of the human…”
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