Search Results - "van Es, Michael"

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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TDP-43 proteinopathies: a new wave of neurodegenerative diseases by de Boer, Eva Maria Johanna, Orie, Viyanti K, Williams, Timothy, Baker, Mark R, De Oliveira, Hugo M, Polvikoski, Tuomo, Silsby, Matthew, Menon, Parvathi, van den Bos, Mehdi, Halliday, Glenda M, van den Berg, Leonard H, Van Den Bosch, Ludo, van Damme, Philip, Kiernan, Matthew C, van Es, Michael A, Vucic, Steve

“…Inclusions of pathogenic deposits containing TAR DNA-binding protein 43 (TDP-43) are evident in the brain and spinal cord of patients that present across a…”
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Genetic variability in sporadic amyotrophic lateral sclerosis by Van Daele, Sien Hilde, Moisse, Matthieu, van Vugt, Joke J F A, Zwamborn, Ramona A J, van der Spek, Rick, van Rheenen, Wouter, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Vourc'h, Patrick, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Ratti, Antonia, de Carvalho, Mamede, Mora Pardina, Jesús S, Povedano, Monica, Andersen, Peter M, Weber, Markus, Başak, Nazli A, Shaw, Chris, Shaw, Pamela J, Morrison, Karen E, Landers, John E, Glass, Jonathan D, van Es, Michael A, van den Berg, Leonard H, Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip

“…Abstract With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in gene testing for this disease. Although there is ample…”
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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients by Bennett, Craig L., Dastidar, Somasish G., Ling, Shuo-Chien, Malik, Bilal, Ashe, Travis, Wadhwa, Mandheer, Miller, Derek B., Lee, Changwoo, Mitchell, Matthew B., van Es, Michael A., Grunseich, Christopher, Chen, Yingzhang, Sopher, Bryce L., Greensmith, Linda, Cleveland, Don W., La Spada, Albert R.

“…Amyotrophic lateral sclerosis type 4 (ALS4) is a rare, early-onset, autosomal dominant form of ALS, characterized by slow disease progression and sparing of…”
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Incidence, causes and consequences of moderate and severe traumatic brain injury as determined by Abbreviated Injury Score in the Netherlands by Jochems, Denise, van Rein, Eveline, Niemeijer, Menco, van Heijl, Mark, van Es, Michael A., Nijboer, Tanja, Leenen, Luke P. H., Houwert, R. Marijn, van Wessem, Karlijn J. P.

“…Traumatic brain injury (TBI) is a leading cause of death and disability. Epidemiology seems to be changing. TBIs are increasingly caused by falls amongst…”
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Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathies by Goedee, H. Stephan, van der Pol, W. Ludo, van Asseldonk, Jan-Thies H., Franssen, Hessel, Notermans, Nicolette C., Vrancken, Alexander J.F.E., van Es, Michael A., Nikolakopoulos, Stavros, Visser, Leo H., van den Berg, Leonard H.

“…OBJECTIVE:To determine the diagnostic value of high-resolution ultrasound (HRUS) for detection of chronic inflammatory demyelinating polyneuropathy (CIDP),…”
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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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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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Screening for cognition in amyotrophic lateral sclerosis: test characteristics of a new screen by Beeldman, Emma, Govaarts, Rosanne, de Visser, Marianne, van Es, Michael A., Pijnenburg, Yolande A. L., Schmand, Ben A., Raaphorst, Joost

“…Cognitive and behavioural impairment in amyotrophic lateral sclerosis (ALS) negatively influences the quality of life and survival, and, therefore, screening…”
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Genetic overlap between apparently sporadic motor neuron diseases by van Blitterswijk, Marka, Vlam, Lotte, van Es, Michael A, van der Pol, W-Ludo, Hennekam, Eric A M, Dooijes, Dennis, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or…”
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The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis by Tan, Harold H. G., Westeneng, Henk‐Jan, Burgh, Hannelore K., Es, Michael A., Bakker, Leonhard A., Veenhuijzen, Kevin, Eijk, Kristel R., Eijk, Ruben P. A., Veldink, Jan H., Berg, Leonard H.

“…Objective The rs12608932 single nucleotide polymorphism in UNC13A is associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)…”
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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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Assessment of the factorial validity and reliability of the ALSFRS-R: a revision of its measurement model by Bakker, Leonhard A., Schröder, Carin D., van Es, Michael A., Westers, Paul, Visser-Meily, Johanna M. A., van den Berg, Leonard H.

“…The amyotrophic lateral sclerosis functional rating scale-revised (ALSFRS-R) is a widely used primary outcome measure in amyotrophic lateral sclerosis (ALS)…”
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ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes by Vieira de Sá, Renata, Sudria-Lopez, Emma, Cañizares Luna, Marta, Harschnitz, Oliver, van den Heuvel, Dianne M. A., Kling, Sandra, Vonk, Danielle, Westeneng, Henk-Jan, Karst, Henk, Bloemenkamp, Lauri, Varderidou-Minasian, Suzy, Schlegel, Domino K., Mars, Mayte, Broekhoven, Mark H., van Kronenburg, Nicky C. H., Adolfs, Youri, Vangoor, Vamshidhar R., de Jongh, Rianne, Ljubikj, Tijana, Peeters, Lianne, Seeler, Sabine, Mocholi, Enric, Basak, Onur, Gordon, David, Giuliani, Fabrizio, Verhoeff, Tessa, Korsten, Giel, Calafat Pla, Teresa, Venø, Morten T., Kjems, Jørgen, Talbot, Kevin, van Es, Michael A., Veldink, Jan H., van den Berg, Leonard H., Zelina, Pavol, Pasterkamp, R. Jeroen

“…Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular…”
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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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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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Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure? by van Eijk, Ruben P. A., Eijkemans, Marinus J. C., Nikolakopoulos, Stavros, Jansen, Marc D., Westeneng, Henk-Jan, van Eijk, Kristel R., van der Spek, Rick A. A., van Vugt, Joke J. F. A., Piepers, Sanne, Groeneveld, Geert-Jan, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A.

“…Genetic mutations related to amyotrophic lateral sclerosis (ALS) act through distinct pathophysiological pathways, which may lead to varying treatment…”
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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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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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Discussing personalized prognosis in amyotrophic lateral sclerosis: development of a communication guide by van Eenennaam, Remko M, Kruithof, Willeke J, van Es, Michael A, Kruitwagen-van Reenen, Esther T, Westeneng, Henk-Jan, Visser-Meily, Johanna M A, van den Berg, Leonard H, Beelen, Anita

“…Personalized ENCALS survival prediction model reliably estimates the personalized prognosis of patients with amyotrophic lateral sclerosis. Concerns were…”
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