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1. Diagnosing primary lateral sclerosis: a clinico-pathological study

Author

de Boer, Eva M. J., de Vries, Bálint S., Van Hecke, Wim, Mühlebner, Angelika, Vincken, Koen L., Mol, Christian P., van Rheenen, Wouter, Westeneng, Henk-Jan, Veldink, Jan H., Höglinger, Günter U., Morris, Huw R., Litvan, Irene, Raaphorst, Joost, Ticozzi, Nicola, Corcia, Philippe, Vandenberghe, Wim, Pijnenburg, Yolande A. L., Seelaar, Harro, Ingre, Caroline, Van Damme, Philip, van den Berg, Leonard H., van de Warrenburg, Bart P. C., and van Es, Michael A.

Published
2025
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2. ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

Author

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, and Pasterkamp, R. Jeroen

Published
2024
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5. Outcomes after robotic thymectomy in nonthymomatous versus thymomatous patients with acetylcholine-receptor-antibody-associated myasthenia gravis

Author

Marcuse, Florit, Hoeijmakers, Janneke G.J., Hochstenbag, Monique, Hamid, Myrurgia Abdul, Keijzers, Marlies, Mané-Damas, Marina, Martinez-Martinez, Pilar, Verschuuren, Jan, Kuks, Jan, Beekman, Roy, van der Kooi, Anneke J., van Doorn, Pieter, van Es, Michael, Maessen, Jos J.G., and De Baets, Marc H.V.

Published
2023
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6. 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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8. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

Author

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, and La Spada, Albert R

Subjects
Biomedical and Clinical Sciences, Neurosciences, Neurodegenerative, ALS, Brain Disorders, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Animals, DNA Helicases, DNA-Binding Proteins, Female, Humans, Male, Mice, Motor Neurons, Multifunctional Enzymes, Nerve Degeneration, Phenotype, RNA Helicases, Amyotrophic lateral sclerosis, Senataxin, Transgenesis, Gene targeting, TDP-43, Nucleocytoplasmic transport, Ran, RanGAP1, Motor neuron, Neurodegeneration, Clinical Sciences, Neurology & Neurosurgery
Abstract

Amyotrophic lateral sclerosis type 4 (ALS4) is a rare, early-onset, autosomal dominant form of ALS, characterized by slow disease progression and sparing of respiratory musculature. Dominant, gain-of-function mutations in the senataxin gene (SETX) cause ALS4, but the mechanistic basis for motor neuron toxicity is unknown. SETX is a RNA-binding protein with a highly conserved helicase domain, but does not possess a low-complexity domain, making it unique among ALS-linked disease proteins. We derived ALS4 mouse models by expressing two different senataxin gene mutations (R2136H and L389S) via transgenesis and knock-in gene targeting. Both approaches yielded SETX mutant mice that develop neuromuscular phenotypes and motor neuron degeneration. Neuropathological characterization of SETX mice revealed nuclear clearing of TDP-43, accompanied by TDP-43 cytosolic mislocalization, consistent with the hallmark pathology observed in human ALS patients. Postmortem material from ALS4 patients exhibited TDP-43 mislocalization in spinal cord motor neurons, and motor neurons from SETX ALS4 mice displayed enhanced stress granule formation. Immunostaining analysis for nucleocytoplasmic transport proteins Ran and RanGAP1 uncovered nuclear membrane abnormalities in the motor neurons of SETX ALS4 mice, and nuclear import was delayed in SETX ALS4 cortical neurons, indicative of impaired nucleocytoplasmic trafficking. SETX ALS4 mice thus recapitulated ALS disease phenotypes in association with TDP-43 mislocalization and provided insight into the basis for TDP-43 histopathology, linking SETX dysfunction to common pathways of ALS motor neuron degeneration.

Published
2018

10. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Author

Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J. F. A., Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A. J., van der Spek, Rick A. A., Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R., Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R., Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E., Dobson, Richard, van Es, Michael A., McLaughlin, Russell L., Vourc’h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P., Mora, Jesus S., Shaw, Pamela J., Landers, John E., Glass, Jonathan D., Shaw, Christopher E., Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., and Al-Chalabi, Ammar

Published
2022
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11. Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial

Author

Willemse, Sean W., Roes, Kit C. B., Van Damme, Philip, Hardiman, Orla, Ingre, Caroline, Povedano, Monica, Wray, Naomi R., Gijzen, Marleen, de Pagter, Mirjam S., Demaegd, Koen C., Janse, Annemarie F. C., Vink, Roel G., Sleutjes, Boudewijn T. H. M., Chiò, Adriano, Corcia, Philippe, Reviers, Evy, Al-Chalabi, Ammar, Kiernan, Matthew C., van den Berg, Leonard H., van Es, Michael A., and van Eijk, Ruben P. A.

Published
2022
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13. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.

Published
2021
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15. Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion

Author

Datamanagement Team 1, Opleiding Neurologie, Projectafdeling ALS, Brain, Neurologen, Neuromuscular Disorders, Biostatistiek Onderzoek, Neurogenetica, Genetic Risks, Van Wijk, Iris F., Van Eijk, Ruben P.A., Van Boxmeer, Loes, Westeneng, Henk Jan, Van Es, Michael A., Van Rheenen, Wouter, Van Den Berg, Leonard H., Eijkemans, Marinus J.C., Veldink, Jan H., Datamanagement Team 1, Opleiding Neurologie, Projectafdeling ALS, Brain, Neurologen, Neuromuscular Disorders, Biostatistiek Onderzoek, Neurogenetica, Genetic Risks, Van Wijk, Iris F., Van Eijk, Ruben P.A., Van Boxmeer, Loes, Westeneng, Henk Jan, Van Es, Michael A., Van Rheenen, Wouter, Van Den Berg, Leonard H., Eijkemans, Marinus J.C., and Veldink, Jan H.

Published
2024

17. Association Between Hypothalamic Volume and Metabolism, Cognition, and Behavior in Patients With Amyotrophic Lateral Sclerosis

Author

Opleiding Neurologie, Neurologen, Brain, Neuromuscular Disorders, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Michielsen, Annebelle, van Veenhuijzen, Kevin, Janse van Mantgem, Mark R., van Es, Michael A., Veldink, Jan H., van Eijk, Ruben P.A., van den Berg, Leonard H., Westeneng, Henk Jan, Opleiding Neurologie, Neurologen, Brain, Neuromuscular Disorders, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Michielsen, Annebelle, van Veenhuijzen, Kevin, Janse van Mantgem, Mark R., van Es, Michael A., Veldink, Jan H., van Eijk, Ruben P.A., van den Berg, Leonard H., and Westeneng, Henk Jan

Published
2024

18. ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

Author

Brain, TN groep Pasterkamp, Opleiding Neurologie, Projectafdeling ALS, TN groep Joëls, Cancer, Regenerative Medicine and Stem Cells, Infection & Immunity, CMM Groep Coffer, Translational Neuroscience, Neurogenetica, In Vivo NMR ISI, Neurologen, Neuromuscular Disorders, Genetic Risks, 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, Brain, TN groep Pasterkamp, Opleiding Neurologie, Projectafdeling ALS, TN groep Joëls, Cancer, Regenerative Medicine and Stem Cells, Infection & Immunity, CMM Groep Coffer, Translational Neuroscience, Neurogenetica, In Vivo NMR ISI, Neurologen, Neuromuscular Disorders, Genetic Risks, 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, and Pasterkamp, R Jeroen

Published
2024

19. Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD)

Author

Opleiding Neurologie, Brain, Genetica Klinische Genetica, Child Health, Neurologen, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Neuromuscular Disorders, de Boer, Eva M J, Demaegd, Koen C, de Bie, Charlotte I, Veldink, Jan H, van den Berg, Leonard H, van Es, Michael A, Opleiding Neurologie, Brain, Genetica Klinische Genetica, Child Health, Neurologen, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Neuromuscular Disorders, de Boer, Eva M J, Demaegd, Koen C, de Bie, Charlotte I, Veldink, Jan H, van den Berg, Leonard H, and van Es, Michael A

Published
2024

23. No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

Author

Goris, An, van Setten, Jessica, Diekstra, Frank, Ripke, Stephan, Patsopoulos, Nikolaos A, Sawcer, Stephen J, van Es, Michael, Andersen, Peter M, Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E, Brown, Robert H, Shatunov, Aleksey, Leigh, Nigel, Al-Chalabi, Ammar, Shaw, Christopher E, Traynor, Bryan J, Chiò, Adriano, Restagno, Gabriella, Mora, Gabriele, Ophoff, Roel A, Oksenberg, Jorge R, Van Damme, Philip, Compston, Alastair, Robberecht, Wim, Dubois, Bénédicte, van den Berg, Leonard H, De Jager, Philip L, Veldink, Jan H, and de Bakker, Paul IW

Subjects
Human Genome, ALS, Multiple Sclerosis, Rare Diseases, Autoimmune Disease, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Comorbidity, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, International Multiple Sclerosis Genetics Consortium, Australia and New Zealand MS Genetics Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Genome-wide association studies have been successful in identifying common variants that influence the susceptibility to complex diseases. From these studies, it has emerged that there is substantial overlap in susceptibility loci between diseases. In line with those findings, we hypothesized that shared genetic pathways may exist between multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS). While both diseases may have inflammatory and neurodegenerative features, epidemiological studies have indicated an increased co-occurrence within individuals and families. To this purpose, we combined genome-wide data from 4088 MS patients, 3762 ALS patients and 12 030 healthy control individuals in whom 5 440 446 single-nucleotide polymorphisms (SNPs) were successfully genotyped or imputed. We tested these SNPs for the excess association shared between MS and ALS and also explored whether polygenic models of SNPs below genome-wide significance could explain some of the observed trait variance between diseases. Genome-wide association meta-analysis of SNPs as well as polygenic analyses fails to provide evidence in favor of an overlap in genetic susceptibility between MS and ALS. Hence, our findings do not support a shared genetic background of common risk variants in MS and ALS.

Published
2014

27. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

Author

Westeneng, Henk-Jan, Debray, Thomas P A, Visser, Anne E, van Eijk, Ruben P A, Rooney, James P K, Calvo, Andrea, Martin, Sarah, McDermott, Christopher J, Thompson, Alexander G, Pinto, Susana, Kobeleva, Xenia, Rosenbohm, Angela, Stubendorff, Beatrice, Sommer, Helma, Middelkoop, Bas M, Dekker, Annelot M, van Vugt, Joke J F A, van Rheenen, Wouter, Vajda, Alice, Heverin, Mark, Kazoka, Mbombe, Hollinger, Hannah, Gromicho, Marta, Körner, Sonja, Ringer, Thomas M, Rödiger, Annekathrin, Gunkel, Anne, Shaw, Christopher E, Bredenoord, Annelien L, van Es, Michael A, Corcia, Philippe, Couratier, Philippe, Weber, Markus, Grosskreutz, Julian, Ludolph, Albert C, Petri, Susanne, de Carvalho, Mamede, Van Damme, Philip, Talbot, Kevin, Turner, Martin R, Shaw, Pamela J, Al-Chalabi, Ammar, Chiò, Adriano, Hardiman, Orla, Moons, Karel G M, Veldink, Jan H, and van den Berg, Leonard H

Published
2018
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29. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Author

Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., and Kamsteeg, Erik-Jan

Published
2020
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30. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

Author

Diekstra, Frank P, Saris, Christiaan GJ, van Rheenen, Wouter, Franke, Lude, Jansen, Ritsert C, van Es, Michael A, van Vught, Paul WJ, Blauw, Hylke M, Groen, Ewout JN, 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, Robert H, Shatunov, Aleksey, Shaw, Christopher E, Leigh, P Nigel, Al-Chalabi, Ammar, Ophoff, Roel A, van den Berg, Leonard H, and Veldink, Jan H

Subjects
Motor Neurons, Humans, Amyotrophic Lateral Sclerosis, Xanthomatosis, Cerebrotendinous, Genetic Predisposition to Disease, Gene Expression Profiling, Pedigree, Genotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, HapMap Project, Cholestanetriol 26-Monooxygenase, Xanthomatosis, Cerebrotendinous, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS) have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic variants associated with complex traits are more likely to be eQTLs than frequency-matched variants from GWAS platforms, we conducted a two-stage genome-wide screening for eQTLs associated with ALS. In addition, we applied an eQTL analysis to finemap association loci. Expression profiles using peripheral blood of 323 sporadic ALS patients and 413 controls were mapped to genome-wide genotyping data. Subsequently, data from a two-stage GWAS (3,568 patients and 10,163 controls) were used to prioritize eQTLs identified in the first stage (162 ALS, 207 controls). These prioritized eQTLs were carried forward to the second sample with both gene-expression and genotyping data (161 ALS, 206 controls). Replicated eQTL SNPs were then tested for association in the second-stage GWAS data to find SNPs associated with disease, that survived correction for multiple testing. We thus identified twelve cis eQTLs with nominally significant associations in the second-stage GWAS data. Eight SNP-transcript pairs of highest significance (lowest p = 1.27 × 10(-51)) withstood multiple-testing correction in the second stage and modulated CYP27A1 gene expression. Additionally, we show that C9orf72 appears to be the only gene in the 9p21.2 locus that is regulated in cis, showing the potential of this approach in identifying causative genes in association loci in ALS. This study has identified candidate genes for sporadic ALS, most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible susceptibility gene for ALS.

Published
2012

31. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.

Published
2022
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32. Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients

Author

Saris, Christiaan GJ, Horvath, Steve, van Vught, Paul WJ, van Es, Michael A, Blauw, Hylke M, Fuller, Tova F, Langfelder, Peter, DeYoung, Joseph, Wokke, John HJ, Veldink, Jan H, van den Berg, Leonard H, and Ophoff, Roel A

Abstract

Abstract Background Amyotrophic Lateral Sclerosis (ALS) is a lethal disorder characterized by progressive degeneration of motor neurons in the brain and spinal cord. Diagnosis is mainly based on clinical symptoms, and there is currently no therapy to stop the disease or slow its progression. Since access to spinal cord tissue is not possible at disease onset, we investigated changes in gene expression profiles in whole blood of ALS patients. Results Our transcriptional study showed dramatic changes in blood of ALS patients; 2,300 probes (9.4%) showed significant differential expression in a discovery dataset consisting of 30 ALS patients and 30 healthy controls. Weighted gene co-expression network analysis (WGCNA) was used to find disease-related networks (modules) and disease related hub genes. Two large co-expression modules were found to be associated with ALS. Our findings were replicated in a second (30 patients and 30 controls) and third dataset (63 patients and 63 controls), thereby demonstrating a highly significant and consistent association of two large co-expression modules with ALS disease status. Ingenuity Pathway Analysis of the ALS related module genes implicates enrichment of functional categories related to genetic disorders, neurodegeneration of the nervous system and inflammatory disease. The ALS related modules contain a number of candidate genes possibly involved in pathogenesis of ALS. Conclusion This first large-scale blood gene expression study in ALS observed distinct patterns between cases and controls which may provide opportunities for biomarker development as well as new insights into the molecular mechanisms of the disease.

Published
2009

33. Development of a Rasch-Built Amyotrophic Lateral Sclerosis Impairment Multidomain Scale to Measure Disease Progression in ALS

Author

de Jongh, Adriaan D., primary, van Eijk, Ruben P.A., additional, Bakker, Leonhard A., additional, Bunte, Tommy M., additional, Beelen, Anita, additional, van der Meijden, Conny, additional, van Es, Michael A., additional, Visser-Meily, Johanna M.A., additional, Kruitwagen, Esther T., additional, Veldink, Jan H., additional, and van den Berg, Leonard H., additional

Published
2023
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34. Gene-network analysis identifies susceptibility genes related to glycobiology in autism.

Author

van der Zwaag, Bert, Franke, Lude, Poot, Martin, Hochstenbach, Ron, Spierenburg, Henk A, Vorstman, Jacob AS, 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, and Staal, Wouter G

Subjects
Brain, Animals, Humans, Mice, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Case-Control Studies, Reproducibility of Results, Autistic Disorder, Chromosome Segregation, Gene Expression Regulation, Developmental, Gene Dosage, Haplotypes, Genome, Human, Software, Gene Regulatory Networks, Glycomics, Gene Expression Regulation, Developmental, Genome, Human, General Science & Technology
Abstract

The recent identification of copy-number variation in the human genome has opened up new avenues for the discovery of positional candidate genes underlying complex genetic disorders, especially in the field of psychiatric disease. One major challenge that remains is pinpointing the susceptibility genes in the multitude of disease-associated loci. This challenge may be tackled by reconstruction of functional gene-networks from the genes residing in these loci. We applied this approach to autism spectrum disorder (ASD), and identified the copy-number changes in the DNA of 105 ASD patients and 267 healthy individuals with Illumina Humanhap300 Beadchips. Subsequently, we used a human reconstructed gene-network, Prioritizer, to rank candidate genes in the segmental gains and losses in our autism cohort. This analysis highlighted several candidate genes already known to be mutated in cognitive and neuropsychiatric disorders, including RAI1, BRD1, and LARGE. In addition, the LARGE gene was part of a sub-network of seven genes functioning in glycobiology, present in seven copy-number changes specifically identified in autism patients with limited co-morbidity. Three of these seven copy-number changes were de novo in the patients. In autism patients with a complex phenotype and healthy controls no such sub-network was identified. An independent systematic analysis of 13 published autism susceptibility loci supports the involvement of genes related to glycobiology as we also identified the same or similar genes from those loci. Our findings suggest that the occurrence of genomic gains and losses of genes associated with glycobiology are important contributors to the development of ASD.

Published
2009

36. Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trial

Author

Abdulla, Susanne, Alsop, Cathy, Barbieri, Francesca, Bates, Stewart, Berry, James D, Botez, Stephan A, Bruneteau, Gaelle, Calvo, Andrea, Camejo, Rodrigo Refoios, Camu, William, Chauhan, Deven, Danel-Brunaud, Veronique, Daniluk, Jerzy, Dekker, Annelot, Destee, Alain, Devine, Matthew, DeWall, Stephen, Dorst, Johannes, Fuda, Giuseppe, Fujimura, Harutoshi, Funke, Andreas, Grehl, Torsten, Grosskreutz, Julian, Gungabissoon, Usha, Henderson, Robert, Ho, Peggy, Huynh, William, Jacob, Saiju, Juntas-Morales, Raul, Kim, Byung-Jo, Kobeleva, Xenia, Koerner, Sonja, Kolb, Stephen, Kollewe, Katja, Korngut, Lawrence, Lautrette, Geraldine, Lee, Amy, Lynch, Anthony, Massie, Rami, Matte, Genevieve, Menezes, Darryl, Milleri, Stefano, Nichols, Linda, Nishiyama, Kazutoshi, Ogino, Mieko, Parkinson, Chris, Pradat, Pierre-François, Prell, Tino, Price, Jeffrey, Ramsey, Eleanor, Ringer, Thomas M, Salmon, Kristiana, Shoesmith, Christen, Soriani, Marie Helene, Stam, Marloes, Steinberg, Erik, Stubbs, Rob, Sullivan, Herman, Van Damme, Philip, van Es, Michael, Visser, Anne, Watson, Mary Lou, Winkler, Andrea Sylvia, Zinman, Lorne, Zoing, Margie, Meininger, Vincent, Genge, Angela, van den Berg, Leonard H, Robberecht, Wim, Ludolph, Albert, Chio, Adriano, Kim, Seung H, Leigh, P Nigel, Kiernan, Matthew C, Shefner, Jeremy M, Desnuelle, Claude, Morrison, Karen E, Petri, Susanne, Boswell, Diane, Temple, Jane, Mohindra, Rajat, Davies, Matt, Bullman, Jonathan, Rees, Paul, and Lavrov, Arseniy

Published
2017
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38. Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion.

Author

Van Wijk, Iris F., Van Eijk, Ruben P.A., Van Boxmeer, Loes, Westeneng, Henk-Jan, Van Es, Michael A., Van Rheenen, Wouter, Van Den Berg, Leonard H., Eijkemans, Marinus J.C., and Veldink, Jan H.

Subjects
RISK assessment, RANDOM effects model, RELATIVES
Abstract

We aimed to estimate the age-related risk of ALS in first-degree relatives of patients with ALS carrying the C9orf72 repeat expansion. We included all patients with ALS carrying a C9orf72 repeat expansion in The Netherlands. Using structured questionnaires, we determined the number of first-degree relatives, their age at death due to ALS or another cause, or age at time of questionnaire. The cumulative incidence of ALS among first-degree relatives was estimated, while accounting for death from other causes. Variability in ALS risk between families was evaluated using a random effects hazards model. We used a second, distinct approach to estimate the risk of ALS and FTD in the general population, using previously published data. In total, 214 of the 2,486 (9.2%) patients with ALS carried the C9orf72 repeat expansion. The mean risk of ALS at age 80 for first-degree relatives carrying the repeat expansion was 24.1%, but ranged between individual families from 16.0 to 60.6%. Using the second approach, we found the risk of ALS and FTD combined was 28.7% (95% CI 17.8%–54.3%) for carriers in the general population. On average, our estimated risk of ALS in the C9orf72 repeat expansion was lower compared to historical estimates. We showed, however, that the risk of ALS likely varies between families and one overall penetrance estimate may not be sufficient to describe ALS risk. This warrants a tailor-made, patient-specific approach in testing. Further studies are needed to assess the risk of FTD in the C9orf72 repeat expansion. [ABSTRACT FROM AUTHOR]

Published
2024
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39. Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).

Author

de Boer, Eva M. J., Demaegd, Koen C., de Bie, Charlotte I., Veldink, Jan H., van den Berg, Leonard H., and van Es, Michael A.

Subjects
MOTOR neuron diseases, SPINAL muscular atrophy, AMYOTROPHIC lateral sclerosis, LITERATURE reviews, PATIENTS' families
Abstract

To report the frequency and characteristics of patients diagnosed with primary lateral sclerosis (PLS) with a positive family history for motor neuron diseases (MND) in the Netherlands and to compare our findings to the literature. Patients were identified through our ongoing, prospective population-based study on MND in The Netherlands, which also includes a standardized collection of patient characteristics, genetic testing, and family history. Only patients meeting the latest consensus criteria for definite PLS were included. The family history was considered positive for MND if any family members had been diagnosed with PLS, amyotrophic lateral sclerosis (ALS)(-FTD), or progressive muscular atrophy (PMA). Additionally, the literature was reviewed on PLS cases in which MND co-occurred within the same family. We identified 392 definite PLS cases, resulting in 9 families with a PLS patient and a positive family history for MND (2.3%). In only one of these pedigrees, a pathogenic variant (C9orf72 repeat expansion) was found. Our literature review revealed 23 families with a co-occurrence of PLS and MND, with 12 of them having a potentially pathogenic genetic variant. The consistent observation of PLS patients with a positive family history for MND, evident in both our study and the literature, implies the presence of shared underlying genetic factors between PLS and ALS. However, these factors are yet to be elucidated. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers

Author

Cammack, Alexander J., Atassi, Nazem, Hyman, Theodore, van den Berg, Leonard H., Harms, Matthew, Baloh, Robert H., Brown, Robert H., van Es, Michael A., Veldink, Jan H., de Vries, Balint S., Rothstein, Jeffrey D., Drain, Caroline, Jockel-Balsarotti, Jennifer, Malcolm, Amber, Boodram, Sonia, Salter, Amber, Wightman, Nicholas, Yu, Hong, Sherman, Alexander V., Esparza, Thomas J., McKenna-Yasek, Diane, Owegi, Margaret A., Douthwright, Catherine, McCampbell, Alexander, Ferguson, Toby, Cruchaga, Carlos, Cudkowicz, Merit, and Miller, Timothy M.

Published
2019
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42. Genetic variability in sporadic amyotrophic lateral sclerosis

Author

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, 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, and 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 experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large studies exploring genetic variation in all ALS-associated genes in sporadic ALS (sALS) are still scarce. Gene testing in a diagnostic setting is challenging, given the complex genetic architecture of sALS, for which there are genetic variants with large and small effect sizes. Guidelines for the interpretation of genetic variants in gene panels and for counselling of patients are lacking. We aimed to provide a thorough characterization of genetic variability in ALS genes by applying the American College of Medical Genetics and Genomics (ACMG) criteria on whole genome sequencing data from a large cohort of 6013 sporadic ALS patients and 2411 matched controls from Project MinE. We studied genetic variation in 90 ALS-associated genes and applied customized ACMG-criteria to identify pathogenic and likely pathogenic variants. Variants of unknown significance were collected as well. In addition, we determined the length of repeat expansions in C9orf72, ATXN1, ATXN2 and NIPA1 using the ExpansionHunter tool. We found C9orf72 repeat expansions in 5.21% of sALS patients. In 50 ALS-associated genes, we did not identify any pathogenic or likely pathogenic variants. In 5.89%, a pathogenic or likely pathogenic variant was found, most commonly in SOD1, TARDBP, FUS, NEK1, OPTN or TBK1. Significantly more cases carried at least one pathogenic or likely pathogenic variant compared to controls (odds ratio 1.75; P-value 1.64 × 10-5). Isolated risk factors in ATXN1, ATXN2, NIPA1 and/or UNC13A were detected in 17.33% of cases. In 71.83%, we did not find any genetic clues. A combination of variants was found in 2.88%. This study provides an inventory of pathogenic and likely pathogenic genetic variation in a large cohort of sALS patients. Overall, we identi

Published
2023
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43. Genetic variability in sporadic amyotrophic lateral sclerosis

Author

Neurogenetica, Brain, AIOS Psychiatrie, Neurologen, Neuromuscular Disorders, Translational Neuroscience, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, 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, van den Berg, Leonard H, Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip, Neurogenetica, Brain, AIOS Psychiatrie, Neurologen, Neuromuscular Disorders, Translational Neuroscience, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, 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, van den Berg, Leonard H, Al-Chalabi, Ammar, Veldink, Jan, and Van Damme, Philip

Published
2023

44. Genetic characterization of primary lateral sclerosis

Author

Opleiding Neurologie, Brain, Projectafdeling ALS, Neurologen, Genetic Risks, Regenerative Medicine and Stem Cells, Neuromuscular Disorders, de Boer, Eva M.J., de Vries, Balint S., Pennings, Maartje, Kamsteeg, Erik Jan, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A., Opleiding Neurologie, Brain, Projectafdeling ALS, Neurologen, Genetic Risks, Regenerative Medicine and Stem Cells, Neuromuscular Disorders, de Boer, Eva M.J., de Vries, Balint S., Pennings, Maartje, Kamsteeg, Erik Jan, Veldink, Jan H., van den Berg, Leonard H., and van Es, Michael A.

Published
2023

45. Association Between Serum Lipids and Survival in Patients With Amyotrophic Lateral Sclerosis: A Meta-analysis and Population-Based Study

Author

Opleiding Neurologie, Neurologen, Brain, Neuromuscular Disorders, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Datamanagement Team 1, Janse Van Mantgem, Mark R., Van Rheenen, Wouter, Hackeng, Anemone V., Van Es, Michael A., Veldink, Jan H., Van Den Berg, Leonard H., Van Eijk, Ruben P.A., Opleiding Neurologie, Neurologen, Brain, Neuromuscular Disorders, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Datamanagement Team 1, Janse Van Mantgem, Mark R., Van Rheenen, Wouter, Hackeng, Anemone V., Van Es, Michael A., Veldink, Jan H., Van Den Berg, Leonard H., and Van Eijk, Ruben P.A.

Published
2023

46. Outcomes after robotic thymectomy in nonthymomatous versus thymomatous patients with acetylcholine-receptor-antibody-associated myasthenia gravis

Author

Neurologen, Brain, Neuromuscular Disorders, Marcuse, Florit, Hoeijmakers, Janneke G.J., Hochstenbag, Monique, Hamid, Myrurgia Abdul, Keijzers, Marlies, Mané-Damas, Marina, Martinez-Martinez, Pilar, Verschuuren, Jan, Kuks, Jan, Beekman, Roy, van der Kooi, Anneke J., van Doorn, Pieter, van Es, Michael, Maessen, Jos J.G., De Baets, Marc H.V., Neurologen, Brain, Neuromuscular Disorders, Marcuse, Florit, Hoeijmakers, Janneke G.J., Hochstenbag, Monique, Hamid, Myrurgia Abdul, Keijzers, Marlies, Mané-Damas, Marina, Martinez-Martinez, Pilar, Verschuuren, Jan, Kuks, Jan, Beekman, Roy, van der Kooi, Anneke J., van Doorn, Pieter, van Es, Michael, Maessen, Jos J.G., and De Baets, Marc H.V.

Published
2023

47. Development of a Rasch-Built Amyotrophic Lateral Sclerosis Impairment Multidomain Scale to Measure Disease Progression in ALS

Author

Projectafdeling ALS, Brain, Neurologen, Revalidatiegeneeskunde Onderzoek, Child Health, Neuromuscular Disorders, RF&S Revalidatie, Fysiotherapie & Sport, Revalidatie Medisch Volwassenen, Circulatory Health, Genetic Risks, Regenerative Medicine and Stem Cells, de Jongh, Adriaan D, van Eijk, Ruben P A, Bakker, Leonhard A, Bunte, Tommy M, Beelen, Anita, van der Meijden, Conny, van Es, Michael A, Visser-Meily, Johanna, Kruitwagen, Esther T, Veldink, Jan H, van den Berg, Leonard H, Projectafdeling ALS, Brain, Neurologen, Revalidatiegeneeskunde Onderzoek, Child Health, Neuromuscular Disorders, RF&S Revalidatie, Fysiotherapie & Sport, Revalidatie Medisch Volwassenen, Circulatory Health, Genetic Risks, Regenerative Medicine and Stem Cells, de Jongh, Adriaan D, van Eijk, Ruben P A, Bakker, Leonhard A, Bunte, Tommy M, Beelen, Anita, van der Meijden, Conny, van Es, Michael A, Visser-Meily, Johanna, Kruitwagen, Esther T, Veldink, Jan H, and van den Berg, Leonard H

Published
2023

48. Longitudinal Effects of Asymptomatic C9orf72 Carriership on Brain Morphology

Author

Opleiding Neurologie, Projectafdeling ALS, RF&S Team 1 Medisch, Neurologen, Brain, Neuromuscular Disorders, Revalidatiegeneeskunde Onderzoek, Genetic Risks, Regenerative Medicine and Stem Cells, van Veenhuijzen, Kevin, Westeneng, Henk Jan, Tan, Harold H.G., Nitert, Abram D., van der Burgh, Hannelore K., Gosselt, Isabel, van Es, Michael A., Nijboer, Tanja C.W., Veldink, Jan H., van den Berg, Leonard H., Opleiding Neurologie, Projectafdeling ALS, RF&S Team 1 Medisch, Neurologen, Brain, Neuromuscular Disorders, Revalidatiegeneeskunde Onderzoek, Genetic Risks, Regenerative Medicine and Stem Cells, van Veenhuijzen, Kevin, Westeneng, Henk Jan, Tan, Harold H.G., Nitert, Abram D., van der Burgh, Hannelore K., Gosselt, Isabel, van Es, Michael A., Nijboer, Tanja C.W., Veldink, Jan H., and van den Berg, Leonard H.

Published
2023

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

Author

Neurogenetica, Brain, Neurologen, Neuromuscular Disorders, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, 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., van Es, Michael A., Neurogenetica, Brain, Neurologen, Neuromuscular Disorders, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, 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

50. UNC13A in amyotrophic lateral sclerosis: From genetic association to therapeutic target

Author

Opleiding Neurologie, Datamanagement Team 1, Projectafdeling ALS, Brain, Translational Neuroscience, Regenerative Medicine and Stem Cells, Neurologen, Neuromuscular Disorders, Genetic Risks, Willemse, Sean W., Harley, Peter, Van Eijk, Ruben P.A., Demaegd, Koen C., Zelina, Pavol, Pasterkamp, R. Jeroen, Van Damme, Philip, Ingre, Caroline, Van Rheenen, Wouter, Veldink, Jan H., Kiernan, Matthew C., Al-Chalabi, Ammar, Van Den Berg, Leonard H., Fratta, Pietro, Van Es, Michael A., Opleiding Neurologie, Datamanagement Team 1, Projectafdeling ALS, Brain, Translational Neuroscience, Regenerative Medicine and Stem Cells, Neurologen, Neuromuscular Disorders, Genetic Risks, Willemse, Sean W., Harley, Peter, Van Eijk, Ruben P.A., Demaegd, Koen C., Zelina, Pavol, Pasterkamp, R. Jeroen, Van Damme, Philip, Ingre, Caroline, Van Rheenen, Wouter, Veldink, Jan H., Kiernan, Matthew C., Al-Chalabi, Ammar, Van Den Berg, Leonard H., Fratta, Pietro, and Van Es, Michael A.

Published
2023

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