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1. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids

Author

van der Geest, Astrid T., Jakobs, Channa E., Ljubikj, Tijana, Huffels, Christiaan F. M., Cañizares Luna, Marta, Vieira de Sá, Renata, Adolfs, Youri, de Wit, Marina, Rutten, Daan H., Kaal, Marthe, Zwartkruis, Maria M., Carcolé, Mireia, Groen, Ewout J. N., Hol, Elly M., Basak, Onur, Isaacs, Adrian M., Westeneng, Henk-Jan, van den Berg, Leonard H., Veldink, Jan H., Schlegel, Domino K., and Pasterkamp, R. Jeroen

Published
2024
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3. 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. Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Author

Restuadi, Restuadi, Steyn, Frederik J, Kabashi, Edor, Ngo, Shyuan T, Cheng, Fei-Fei, Nabais, Marta F, Thompson, Mike J, Qi, Ting, Wu, Yang, Henders, Anjali K, Wallace, Leanne, Bye, Chris R, Turner, Bradley J, Ziser, Laura, Mathers, Susan, McCombe, Pamela A, Needham, Merrilee, Schultz, David, Kiernan, Matthew C, van Rheenen, Wouter, van den Berg, Leonard H, Veldink, Jan H, Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F, Henderson, Robert D, Wray, Naomi R, Giacomotto, Jean, and Garton, Fleur C

Subjects
Biological Sciences, Genetics, ALS, Neurodegenerative, Human Genome, Neurosciences, Rare Diseases, Brain Disorders, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Animals, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neurodegenerative Diseases, Polymorphism, Single Nucleotide, Zebrafish, Motor neurone disease, MND, Genome-wide association study, Computational biology, Neurodegenerative diseases, Quantitative trait loci, Genes, Regulator, Disease progression, Clinical Sciences
Abstract

BackgroundAmyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the TNIP1/GPX3 locus on chromosome five. Given association analysis data alone cannot determine the most plausible risk gene for this locus, we undertook a comprehensive suite of in silico, in vivo and in vitro studies to address this.MethodsThe Functional Mapping and Annotation (FUMA) pipeline and five tools (conditional and joint analysis (GCTA-COJO), Stratified Linkage Disequilibrium Score Regression (S-LDSC), Polygenic Priority Scoring (PoPS), Summary-based Mendelian Randomisation (SMR-HEIDI) and transcriptome-wide association study (TWAS) analyses) were used to perform bioinformatic integration of GWAS data (Ncases = 20,806, Ncontrols = 59,804) with 'omics reference datasets including the blood (eQTLgen consortium N = 31,684) and brain (N = 2581). This was followed up by specific expression studies in ALS case-control cohorts (microarray Ntotal = 942, protein Ntotal = 300) and gene knockdown (KD) studies of human neuronal iPSC cells and zebrafish-morpholinos (MO).ResultsSMR analyses implicated both TNIP1 and GPX3 (p < 1.15 × 10-6), but there was no simple SNP/expression relationship. Integrating multiple datasets using PoPS supported GPX3 but not TNIP1. In vivo expression analyses from blood in ALS cases identified that lower GPX3 expression correlated with a more progressed disease (ALS functional rating score, p = 5.5 × 10-3, adjusted R2 = 0.042, Beffect = 27.4 ± 13.3 ng/ml/ALSFRS unit) with microarray and protein data suggesting lower expression with risk allele (recessive model p = 0.06, p = 0.02 respectively). Validation in vivo indicated gpx3 KD caused significant motor deficits in zebrafish-MO (mean difference vs. control ± 95% CI, vs. control, swim distance = 112 ± 28 mm, time = 1.29 ± 0.59 s, speed = 32.0 ± 2.53 mm/s, respectively, p for all

Published
2022

6. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Author

Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chia, Ruth, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Peverelli, Silvia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Corrado, Lucia, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Dalgard, Clifton L., Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., Saez-Atienzar, Sara, Souza, Cleide dos Santos, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Jones, Ashley, Dewan, Ramita, van Vugt, Joke J.F.A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Iacoangeli, Alfredo, Shatunov, Aleksey, Verde, Federico, Kenna, Kevin, Al Khleifat, Ahmad, Opie-Martin, Sarah, Piccinelli, Stefano Cotti, Padovani, Alessandro, Galimberti, Daniela, Serpente, Maria, Fenoglio, Chiara, Scarpini, Elio, Curtis, Charles J., Lee, Sang Hyuck, Chung, Raymond, Patel, Hamel, Cooper-Knock, Johnathan, Breen, Gerome, Dobson, Richard J.B., van den Berg, Leonard H., D’Alfonso, Sandra, Chandran, Siddharthan, Pal, Suvankar, Johnson, Kory, Doucet-O’Hare, Tara, Pasternack, Nicholas, Wang, Tongguang, Nath, Avindra, Veldink, Jan H., Chiò, Adriano, Sattler, Rita, Shaw, Christopher E., and Ferraiuolo, Laura

Published
2024
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8. A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial

Author

Lombardo, Flavia L., Spila Alegiani, Stefania, Mayer, Flavia, Cipriani, Marta, Lo Giudice, Maria, Ludolph, Albert Christian, McDermott, Christopher J., Corcia, Philippe, Van Damme, Philip, Van den Berg, Leonard H., Hardiman, Orla, Nicolini, Gabriele, Vanacore, Nicola, Dickie, Brian, Albanese, Alberto, and Puopolo, Maria

Published
2023
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10. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Author

Bakker, Mark K, van der Spek, Rick AA, van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C, Alg, Varinder S, van Eijk, Kristel R, Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G, Lin, Kuang, Li, Liming, Millwood, Iona Y, Chen, Zhengming, Rouleau, Guy A, Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie LM, Houlden, Henry, van den Berg, Leonard H, Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S, Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M, Sandvei, Marie Søfteland, Willer, Cristen J, Hveem, Kristian, Zwart, John-Anker, Verschuren, WM Monique, Friedrich, Christoph M, Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Jones, Gregory T, Bown, Matthew J, Ko, Nerissa U, Kim, Helen, Coleman, Jonathan RI, Breen, Gerome, Zaroff, Jonathan G, Klijn, Catharina JM, Malik, Rainer, Dichgans, Martin, Sargurupremraj, Muralidharan, Tatlisumak, Turgut, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel JE, Worrall, Bradford B, Pera, Joanna, Slowik, Agnieszka, Gaál-Paavola, Emília I, Niemelä, Mika, Jääskeläinen, Juha E, von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P, Werring, David J, Woo, Daniel, Redon, Richard, Bijlenga, Philippe, Kamatani, Yoichiro, Veldink, Jan H, and Ruigrok, Ynte M

Subjects
Genetics, Brain Disorders, Human Genome, Clinical Research, Prevention, Stroke, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Asian People, Blood Pressure, Case-Control Studies, Endothelial Cells, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Hypertension, Intracranial Aneurysm, Polymorphism, Single Nucleotide, Risk Factors, Smoking, Subarachnoid Hemorrhage, White People, HUNT All-In Stroke, China Kadoorie Biobank Collaborative Group, BioBank Japan Project Consortium, ICAN Study Group, CADISP Group, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators, International Stroke Genetics Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.

Published
2020

11. Addressing heterogeneity in amyotrophic lateral sclerosis CLINICAL TRIALS.

Author

Goyal, Namita A, Berry, James D, Windebank, Anthony, Staff, Nathan P, Maragakis, Nicholas J, van den Berg, Leonard H, Genge, Angela, Miller, Robert, Baloh, Robert H, Kern, Ralph, Gothelf, Yael, Lebovits, Chaim, and Cudkowicz, Merit

Subjects
Humans, Amyotrophic Lateral Sclerosis, Disease Progression, Respiratory Function Tests, Prognosis, Risk Assessment, Reproducibility of Results, Speech, Transcranial Magnetic Stimulation, Muscle Strength, Clinical Trials as Topic, Biomarkers, Precision Medicine, Biological Variation, Population, Physical Functional Performance, Drug Development, Outcome Assessment, Health Care, amyotrophic lateral sclerosis, biomarkers, clinical trials, disease heterogeneity, enrichment strategies, outcome measures, Biological Variation, Population, Outcome Assessment, Health Care, Neurology & Neurosurgery, Medical and Health Sciences
Abstract

Amyotrophic lateral sclerosis (ALS) is a debilitating neurodegenerative disorder with complex biology and significant clinical heterogeneity. Many preclinical and early phase ALS clinical trials have yielded promising results that could not be replicated in larger phase 3 confirmatory trials. One reason for the lack of reproducibility may be ALS biological and clinical heterogeneity. Therefore, in this review, we explore sources of ALS heterogeneity that may reduce statistical power to evaluate efficacy in ALS trials. We also review efforts to manage clinical heterogeneity, including use of validated disease outcome measures, predictive biomarkers of disease progression, and individual clinical risk stratification. We propose that personalized prognostic models with use of predictive biomarkers may identify patients with ALS for whom a specific therapeutic strategy may be expected to be more successful. Finally, the rapid application of emerging clinical and biomarker strategies may reduce heterogeneity, increase trial efficiency, and, in turn, accelerate ALS drug development.

Published
2020

12. The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

Author

Chen, Zhongbo, Reynolds, Regina H., Pardiñas, Antonio F., Gagliano Taliun, Sarah A., van Rheenen, Wouter, Lin, Kuang, Shatunov, Aleksey, Gustavsson, Emil K., Fogh, Isabella, Jones, Ashley R., Robberecht, Wim, Corcia, Philippe, Chiò, Adriano, Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Shaw, Christopher E., Powell, John F., Silani, Vincenzo, Hardy, John A., Houlden, Henry, Owen, Michael J., Turner, Martin R., Ryten, Mina, and Al-Chalabi, Ammar

Published
2023
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14. Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

Author

van den Berg, Leonard H, Sorenson, Eric, Gronseth, Gary, Macklin, Eric A, Andrews, Jinsy, Baloh, Robert H, Benatar, Michael, Berry, James D, Chio, Adriano, Corcia, Philippe, Genge, Angela, Gubitz, Amelie K, Lomen-Hoerth, Catherine, McDermott, Christopher J, Pioro, Erik P, Rosenfeld, Jeffrey, Silani, Vincenzo, Turner, Martin R, Weber, Markus, Brooks, Benjamin Rix, Miller, Robert G, Mitsumoto, Hiroshi, and Group, for the Airlie House ALS Clinical Trials Guidelines

Subjects
ALS, Clinical Research, Neurosciences, Brain Disorders, Neurodegenerative, Clinical Trials and Supportive Activities, Rare Diseases, Amyotrophic Lateral Sclerosis, Biomarkers, Clinical Trials as Topic, Delphi Technique, Guidelines as Topic, Humans, Outcome Assessment, Health Care, Patient Selection, Research Design, Statistics as Topic, Airlie House ALS Clinical Trials Guidelines Group, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo revise the 1999 Airlie House consensus guidelines for the design and implementation of preclinical therapeutic studies and clinical trials in amyotrophic lateral sclerosis (ALS).MethodsA consensus committee comprising 140 key members of the international ALS community (ALS researchers, clinicians, patient representatives, research funding representatives, industry, and regulatory agencies) addressed 9 areas of need within ALS research: (1) preclinical studies; (2) biological and phenotypic heterogeneity; (3) outcome measures; (4) disease-modifying and symptomatic interventions; (5) recruitment and retention; (6) biomarkers; (7) clinical trial phases; (8) beyond traditional trial designs; and (9) statistical considerations. Assigned to 1 of 8 sections, committee members generated a draft set of guidelines based on a "background" of developing a (pre)clinical question and a "rationale" outlining the evidence and expert opinion. Following a 2-day, face-to-face workshop at the Airlie House Conference Center, a modified Delphi process was used to develop draft consensus research guidelines, which were subsequently reviewed and modified based on comments from the public. Statistical experts drafted a separate document of statistical considerations (section 9).ResultsIn this report, we summarize 112 guidelines and their associated backgrounds and rationales. The full list of guidelines, the statistical considerations, and a glossary of terms can be found in data available from Dryad (appendices e-3-e-5, doi.org/10.5061/dryad.32q9q5d). The authors prioritized 15 guidelines with the greatest potential to improve ALS clinical research.ConclusionThe revised Airlie House ALS Clinical Trials Consensus Guidelines should serve to improve clinical trial design and accelerate the development of effective treatments for patients with ALS.

Published
2019

15. Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

Author

Blair, Ian, Wray, Naomi R., Kiernan, Matthew, Mitne Neto, Miguel, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Nazli A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Moll, Tobias, Marshall, Jack N.G., Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A., Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R., Eitan, Chen, Hornstein, Eran, Kenna, Kevin P., Ferraiuolo, Laura, and Snyder, Michael P.

Published
2022
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16. 10Kin1day: A Bottom-Up Neuroimaging Initiative

Author

van den Heuvel, Martijn P, Scholtens, Lianne H, van der Burgh, Hannelore K, Agosta, Federica, Alloza, Clara, Arango, Celso, Auyeung, Bonnie, Baron-Cohen, Simon, Basaia, Silvia, Benders, Manon JNL, Beyer, Frauke, Booij, Linda, Braun, Kees PJ, Filho, Geraldo Busatto, Cahn, Wiepke, Cannon, Dara M, Chaim-Avancini, Tiffany M, Chan, Sandra SM, Chen, Eric YH, Crespo-Facorro, Benedicto, Crone, Eveline A, Dannlowski, Udo, de Zwarte, Sonja MC, Dietsche, Bruno, Donohoe, Gary, Du Plessis, Stefan, Durston, Sarah, Díaz-Caneja, Covadonga M, Díaz-Zuluaga, Ana M, Emsley, Robin, Filippi, Massimo, Frodl, Thomas, Gorges, Martin, Graff, Beata, Grotegerd, Dominik, Gąsecki, Dariusz, Hall, Julie M, Holleran, Laurena, Holt, Rosemary, Hopman, Helene J, Jansen, Andreas, Janssen, Joost, Jodzio, Krzysztof, Jäncke, Lutz, Kaleda, Vasiliy G, Kassubek, Jan, Masouleh, Shahrzad Kharabian, Kircher, Tilo, Koevoets, Martijn GJC, Kostic, Vladimir S, Krug, Axel, Lawrie, Stephen M, Lebedeva, Irina S, Lee, Edwin HM, Lett, Tristram A, Lewis, Simon JG, Liem, Franziskus, Lombardo, Michael V, Lopez-Jaramillo, Carlos, Margulies, Daniel S, Markett, Sebastian, Marques, Paulo, Martínez-Zalacaín, Ignacio, McDonald, Colm, McIntosh, Andrew M, McPhilemy, Genevieve, Meinert, Susanne L, Menchón, José M, Montag, Christian, Moreira, Pedro S, Morgado, Pedro, Mothersill, David O, Mérillat, Susan, Müller, Hans-Peter, Nabulsi, Leila, Najt, Pablo, Narkiewicz, Krzysztof, Naumczyk, Patrycja, Oranje, Bob, de la Foz, Victor Ortiz-Garcia, Peper, Jiska S, Pineda, Julian A, Rasser, Paul E, Redlich, Ronny, Repple, Jonathan, Reuter, Martin, Rosa, Pedro GP, Ruigrok, Amber NV, Sabisz, Agnieszka, Schall, Ulrich, Seedat, Soraya, Serpa, Mauricio H, Skouras, Stavros, Soriano-Mas, Carles, Sousa, Nuno, Szurowska, Edyta, Tomyshev, Alexander S, Tordesillas-Gutierrez, Diana, Valk, Sofie L, and van den Berg, Leonard H

Subjects
Biological Psychology, Psychology, Biomedical Imaging, Brain Disorders, Neurosciences, Neurological, MRI, connectome analysis, diffusion weighted MRI, brain, network, Clinical Sciences, Clinical sciences, Biological psychology
Abstract

We organized 10Kin1day, a pop-up scientific event with the goal to bring together neuroimaging groups from around the world to jointly analyze 10,000+ existing MRI connectivity datasets during a 3-day workshop. In this report, we describe the motivation and principles of 10Kin1day, together with a public release of 8,000+ MRI connectome maps of the human brain.

Published
2019

18. 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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19. 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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20. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation

Author

Richard, Melissa A, Huan, Tianxiao, Ligthart, Symen, Gondalia, Rahul, Jhun, Min A, Brody, Jennifer A, Irvin, Marguerite R, Marioni, Riccardo, Shen, Jincheng, Tsai, Pei-Chien, Montasser, May E, Jia, Yucheng, Syme, Catriona, Salfati, Elias L, Boerwinkle, Eric, Guan, Weihua, Mosley, Thomas H, Bressler, Jan, Morrison, Alanna C, Liu, Chunyu, Mendelson, Michael M, Uitterlinden, André G, van Meurs, Joyce B, Consortium, BIOS, Heijmans, Bastiaan T, Hoen, Peter AC ’t, van Meurs, Joyce, Isaacs, Aaron, Jansen, Rick, Franke, Lude, Boomsma, Dorret I, Pool, René, van Dongen, Jenny, Hottenga, Jouke J, van Greevenbroek, Marleen MJ, Stehouwer, Coen DA, van der Kallen, Carla JH, Schalkwijk, Casper G, Wijmenga, Cisca, Zhernakova, Alexandra, Tigchelaar, Ettje F, Slagboom, P Eline, Beekman, Marian, Deelen, Joris, van Heemst, Diana, Veldink, Jan H, van den Berg, Leonard H, van Duijn, Cornelia M, Hofman, Albert, Jhamai, P Mila, Verbiest, Michael, Suchiman, H Eka D, Verkerk, Marijn, van der Breggen, Ruud, van Rooij, Jeroen, Lakenberg, Nico, Mei, Hailiang, van Iterson, Maarten, van Galen, Michiel, Bot, Jan, van ’t Hof, Peter, Deelen, Patrick, Nooren, Irene, Moed, Matthijs, Vermaat, Martijn, Zhernakova, Dasha V, Luijk, René, Bonder, Marc Jan, van Dijk, Freerk, Arindrarto, Wibowo, Kielbasa, Szymon M, Swertz, Morris A, van Zwet, Erik W, Franco, Oscar H, Zhang, Guosheng, Li, Yun, Stewart, James D, Bis, Joshua C, Psaty, Bruce M, Chen, Yii-Der Ida, Kardia, Sharon LR, Zhao, Wei, Turner, Stephen T, Absher, Devin, Aslibekyan, Stella, Starr, John M, McRae, Allan F, Hou, Lifang, Just, Allan C, Schwartz, Joel D, Vokonas, Pantel S, Menni, Cristina, Spector, Tim D, Shuldiner, Alan, Damcott, Coleen M, Rotter, Jerome I, Palmas, Walter, Liu, Yongmei, and Paus, Tomáš

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Hypertension, Human Genome, 2.1 Biological and endogenous factors, Cardiovascular, Aged, Blood Pressure, CpG Islands, Cross-Sectional Studies, DNA Methylation, Epigenesis, Genetic, Genetic Variation, Genome-Wide Association Study, Humans, Mendelian Randomization Analysis, Middle Aged, Nerve Tissue Proteins, Quantitative Trait Loci, Tetraspanins, BIOS Consortium, DNA methylation, Mendelian randomization, blood pressure, epigenome-wide association study, gene expression, sequence variation, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Genome-wide association studies have identified hundreds of genetic variants associated with blood pressure (BP), but sequence variation accounts for a small fraction of the phenotypic variance. Epigenetic changes may alter the expression of genes involved in BP regulation and explain part of the missing heritability. We therefore conducted a two-stage meta-analysis of the cross-sectional associations of systolic and diastolic BP with blood-derived genome-wide DNA methylation measured on the Infinium HumanMethylation450 BeadChip in 17,010 individuals of European, African American, and Hispanic ancestry. Of 31 discovery-stage cytosine-phosphate-guanine (CpG) dinucleotides, 13 replicated after Bonferroni correction (discovery: N = 9,828, p < 1.0 × 10-7; replication: N = 7,182, p  30%) and independent of known BP genetic variants, explaining an additional 1.4% and 2.0% of the interindividual variation in systolic and diastolic BP, respectively. Bidirectional Mendelian randomization among up to 4,513 individuals of European ancestry from 4 cohorts suggested that methylation at cg08035323 (TAF1B-YWHAQ) influences BP, while BP influences methylation at cg00533891 (ZMIZ1), cg00574958 (CPT1A), and cg02711608 (SLC1A5). Gene expression analyses further identified six genes (TSPAN2, SLC7A11, UNC93B1, CPT1A, PTMS, and LPCAT3) with evidence of triangular associations between methylation, gene expression, and BP. Additional integrative Mendelian randomization analyses of gene expression and DNA methylation suggested that the expression of TSPAN2 is a putative mediator of association between DNA methylation at cg23999170 and BP. These findings suggest that heritable DNA methylation plays a role in regulating BP independently of previously known genetic variants.

Published
2017

21. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

Author

McLaughlin, Russell L, Schijven, Dick, van Rheenen, Wouter, van Eijk, Kristel R, O'Brien, Margaret, Kahn, René S, Ophoff, Roel A, Goris, An, Bradley, Daniel G, Al-Chalabi, Ammar, van den Berg, Leonard H, Luykx, Jurjen J, Hardiman, Orla, Veldink, Jan H, Project MinE GWAS Consortium, and Schizophrenia Working Group of the Psychiatric Genomics Consortium

Subjects
Project MinE GWAS Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Humans, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, Linear Models, Odds Ratio, Case-Control Studies, Cohort Studies, Family, Schizophrenia, Comorbidity, Multifactorial Inheritance, Linkage Disequilibrium, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Genome-Wide Association Study, Serious Mental Illness, Genetics, Neurodegenerative, Brain Disorders, Mental Health, Human Genome, ALS, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Mental health
Abstract

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P=1 × 10-4) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P=8.4 × 10-7). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.

Published
2017

22. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author

Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N., Martinez, Elisa McGrath, Pollard, Harvey B., Sukumar, Gauthaman, Soltis, Anthony R., Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Kost, Jason, Scotter, Emma L., Kenna, Kevin P., Miller, Jack W., Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Rademakers, Rosa, van Blitterswijk, Marka, Boylan, Kevin B., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Jr., Shaw, Christopher E., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, H., Caulfield, Mark J., Chan, Georgia C., Craig, Clare E.H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thomas, Ellen R.A., Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Arepalli, Sampath, Auluck, Pavan, Baloh, Robert H., Bowser, Robert, Brice, Alexis, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Corcia, Philippe, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Faghri, Faraz, Farren, Jennifer, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Goutman, Stephen A., Heiman-Patterson, Terry D., Hernandez, Dena G., Hoover, Ben, Jansson, Lilja, Kamel, Freya, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Sendtner, Michael, Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Den Bosch, Ludo, Zinman, Lorne, Albani, Diego, Borroni, Barbara, Padovani, Alessandro, Bruni, Amalia, Clarimon, Jordi, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Danek, Adrian, Galimberti, Daniela, Scarpini, Elio, Serpente, Maria, Graff, Caroline, Chiang, Huei-Hsin, Khoshnood, Behzad, Öijerstedt, Linn, Morris, Christopher M., Nacmias, Benedetta, Sorbi, Sandro, Nielsen, Jorgen E., Hjermind, Lynne E., Novelli, Valeria, Puca, Annibale A., Pastor, Pau, Alvarez, Ignacio, Diez-Fairen, Monica, Aguilar, Miquel, Perneczky, Robert, Diehl-Schimd, Janine, Rossi, Mina, Ruiz, Agustin, Boada, Mercè, Hernández, Isabel, Moreno-Grau, Sonia, Schlachetzki, Johannes C., Aarsland, Dag, Albert, Marilyn S., Attems, Johannes, Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Besser, Lilah M., Bigio, Eileen H., Black, Sandra E., Boeve, Bradley F., Bohannan, Ryan C., Brett, Francesca, Brunetti, Maura, Caraway, Chad A., Palma, Jose-Alberto, Calvo, Andrea, Canosa, Antonio, Dickson, Dennis, Duyckaerts, Charles, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E., Floris, Gianluca, Foroud, Tatiana M., Fortea, Juan, Gan-Or, Ziv, Gentleman, Steve, Ghetti, Bernardino, Gibbs, Jesse Raphael, Goate, Alison, Goldstein, David, González-Aramburu, Isabel, Graff-Radford, Neill R., Hodges, Angela K., Hu, Heng-Chen, Hupalo, Daniel, Infante, Jon, Iranzo, Alex, Kaiser, Scott M., Kaufmann, Horacio, Keith, Julia, Kim, Ronald C., Klein, Gregory, Krüger, Rejko, Kukull, Walter, Kuzma, Amanda, Lage, Carmen, Lesage, Suzanne, Leverenz, James B., Logroscino, Giancarlo, Lopez, Grisel, Love, Seth, Mao, Qinwen, Marti, Maria Jose, Martinez-McGrath, Elisa, Masellis, Mario, Masliah, Eliezer, May, Patrick, McKeith, Ian, Mesulam, Marek-Marsel, Monuki, Edwin S., Newell, Kathy L., Norcliffe-Kaufmann, Lucy, Palmer, Laura, Perkins, Matthew, Pletnikova, Olga, Molina-Porcel, Laura, Reynolds, Regina H., Rodríguez-Rodríguez, Eloy, Rohrer, Jonathan D., Sanchez-Juan, Pascual, Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram, Sidransky, Ellen, Tayebi, Nahid, Thomas, Alan J., Tilley, Bension S., Walton, Ronald L., Woltjer, Randy, Wszolek, Zbigniew K., Xiromerisiou, Georgia, Zecca, Chiara, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Shneider, Neil A., Fraenkel, Ernest, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Amar, Khaled, Archibald, Neil, Bandmann, Oliver, Capps, Erica, Church, Alistair, Coebergh, Jan, Costantini, Alyssa, Critchley, Peter, Ghosh, Boyd CP., Hu, Michele T.M., Kobylecki, Christopher, Leigh, P. Nigel, Mann, Carl, Massey, Luke A., Morris, Huw R., Nath, Uma, Pavese, Nicola, Paviour, Dominic, Sharma, Jagdish, Vaughan, Jenny, Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A., Stein, Thor D., Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S., Portley, Makayla K., Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, F.N.U., Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L., Johansson, Per M., Nilsson, Christer F., Rowe, James B., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D., Singleton, Andrew B., Silani, Vincenzo, Ross, Owen A., Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M., Pickering-Brown, Stuart, Brady, Christopher B., Kowal, Neil, Hardy, John A., Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matthew B., Ferrari, Raffaele, Landers, John E., Gibbs, J. Raphael, Dalgard, Clifton L., Scholz, Sonja W., and Traynor, Bryan J.

Published
2021
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23. European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERNEURO‐NMD)

Author

Van Damme, Philip, primary, Al‐Chalabi, Ammar, additional, Andersen, Peter M., additional, Chiò, Adriano, additional, Couratier, Philippe, additional, De Carvalho, Mamede, additional, Hardiman, Orla, additional, Kuźma‐Kozakiewicz, Magdalena, additional, Ludolph, Albert, additional, McDermott, Christopher J., additional, Mora, Jesus S., additional, Petri, Susanne, additional, Probyn, Katrin, additional, Reviers, Evy, additional, Salachas, François, additional, Silani, Vincenzo, additional, Tysnes, Ole‐Bjørn, additional, van den Berg, Leonard H., additional, Villanueva, Gemma, additional, and Weber, Markus, additional

Published
2024
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25. Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial

Author

Neurologen, Projectafdeling ALS, Brain, Opleiding Neurologie, ALS Trial team, Benatar, Michael, Hansen, Thomas, Rom, Dror, Geist, Marie A., Blaettler, Thomas, Camu, William, Kuzma-Kozakiewicz, Magdalena, van den Berg, Leonard H., Morales, Raul Juntas, Chio, Adriano, Andersen, Peter M., Pradat, Pierre Francois, Lange, Dale, Van Damme, Philip, Mora, Gabriele, Grudniak, Mariusz, Elliott, Matthew, Petri, Susanne, Olney, Nicholas, Ladha, Shafeeq, Goyal, Namita A., Meyer, Thomas, Hanna, Michael G., Quinn, Colin, Genge, Angela, Zinman, Lorne, Jabari, Duaa, Shoesmith, Christen, Ludolph, Albert C., Neuwirth, Christoph, Nations, Sharon, Shefner, Jeremy M., Turner, Martin R., Wuu, Joanne, Bennett, Richard, Dang, Hoang, Sundgreen, Claus, ORARIALS-01 trial team, Neurologen, Projectafdeling ALS, Brain, Opleiding Neurologie, ALS Trial team, Benatar, Michael, Hansen, Thomas, Rom, Dror, Geist, Marie A., Blaettler, Thomas, Camu, William, Kuzma-Kozakiewicz, Magdalena, van den Berg, Leonard H., Morales, Raul Juntas, Chio, Adriano, Andersen, Peter M., Pradat, Pierre Francois, Lange, Dale, Van Damme, Philip, Mora, Gabriele, Grudniak, Mariusz, Elliott, Matthew, Petri, Susanne, Olney, Nicholas, Ladha, Shafeeq, Goyal, Namita A., Meyer, Thomas, Hanna, Michael G., Quinn, Colin, Genge, Angela, Zinman, Lorne, Jabari, Duaa, Shoesmith, Christen, Ludolph, Albert C., Neuwirth, Christoph, Nations, Sharon, Shefner, Jeremy M., Turner, Martin R., Wuu, Joanne, Bennett, Richard, Dang, Hoang, Sundgreen, Claus, and ORARIALS-01 trial team

Published
2024

26. 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

27. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

Author

Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Marriott, Heather, Spargo, Thomas P, Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazli A, Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E, McLaughlin, Russell, Pardina, Jesús S Mora, Morrison, Karen E, Pinto, Susana, Shaw, Christopher E, Shaw, Pamela J, Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H, Vourc'h, Patrick, Weber, Markus, Veldink, Jan H, Dobson, Richard J, Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo, Project MinE ALS Sequencing Consortium, Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Marriott, Heather, Spargo, Thomas P, Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazli A, Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E, McLaughlin, Russell, Pardina, Jesús S Mora, Morrison, Karen E, Pinto, Susana, Shaw, Christopher E, Shaw, Pamela J, Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H, Vourc'h, Patrick, Weber, Markus, Veldink, Jan H, Dobson, Richard J, Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo, and Project MinE ALS Sequencing Consortium

Published
2024

28. A comparison between bioelectrical impedance analysis and air-displacement plethysmography in assessing fat-free mass in patients with motor neurone diseases: a cross-sectional study

Author

Opleiding Neurologie, ALS Onderzoeksbureau, Projectafdeling ALS, Neurologen, Brain, Afdeling Dietetiek, Cancer, Datamanagement Team 1, Janse van Mantgem, Mark R., Soors D’Ancona, Maaike L., Meyjes, Myrte, Van Den Berg, Leonard H., Steenhagen, Elles, Kok, Annemieke, Van Eijk, Ruben P.A., Opleiding Neurologie, ALS Onderzoeksbureau, Projectafdeling ALS, Neurologen, Brain, Afdeling Dietetiek, Cancer, Datamanagement Team 1, Janse van Mantgem, Mark R., Soors D’Ancona, Maaike L., Meyjes, Myrte, Van Den Berg, Leonard H., Steenhagen, Elles, Kok, Annemieke, and Van Eijk, Ruben P.A.

Published
2024

29. Trial Participation in Neurodegenerative Diseases: Barriers and Facilitators: A Systematic Review and Meta-Analysis

Author

Projectafdeling ALS, Child Health, Brain, Revalidatiegeneeskunde Onderzoek, Cancer, CMM Groep Janssen, Neurologen, Regenerative Medicine and Stem Cells, Weemering, Daphne N., Beelen, Anita, Kliest, Tessa, van Leeuwen, Lucie A.G., van den Berg, Leonard H., van Eijk, Ruben P.A., Projectafdeling ALS, Child Health, Brain, Revalidatiegeneeskunde Onderzoek, Cancer, CMM Groep Janssen, Neurologen, Regenerative Medicine and Stem Cells, Weemering, Daphne N., Beelen, Anita, Kliest, Tessa, van Leeuwen, Lucie A.G., van den Berg, Leonard H., and van Eijk, Ruben P.A.

Published
2024

32. 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

33. A 21-bp deletion in the complement regulator CD55 promotor region is associated with multifocal motor neuropathy and its disease course

Author

Opleiding Neurologie, CTI, CDL Cluster Speciële Diagnostiek, Infection & Immunity, CTI Budding, Datamanagement Team 1, Projectafdeling ALS, Brain, CTI Otten, Neurologen, Regenerative Medicine and Stem Cells, Bos, Jeroen W., Groen, Ewout J.N., Otten, Henny G., Budding, Kevin, van Eijk, Ruben P.A., Curial, Chantall, Kardol-Hoefnagel, Tineke, Goedee, H. Stephan, van den Berg, Leonard H., van der Pol, W. Ludo, Opleiding Neurologie, CTI, CDL Cluster Speciële Diagnostiek, Infection & Immunity, CTI Budding, Datamanagement Team 1, Projectafdeling ALS, Brain, CTI Otten, Neurologen, Regenerative Medicine and Stem Cells, Bos, Jeroen W., Groen, Ewout J.N., Otten, Henny G., Budding, Kevin, van Eijk, Ruben P.A., Curial, Chantall, Kardol-Hoefnagel, Tineke, Goedee, H. Stephan, van den Berg, Leonard H., and van der Pol, W. Ludo

Published
2024

34. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

Author

Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo, Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al-Chalabi, Ammar, and Iacoangeli, Alfredo

Abstract

Objective: Neurofilament heavy-chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to determine if NEFH variants modify ALS risk. Methods: Genetic data of 11,130 people with ALS and 7,416 controls from the literature and Project MinE were analysed. We performed meta-analyses of published case–control studies reporting NEFH variants, and variant analysis of NEFH in Project MinE whole-genome sequencing data. Results: Fixed-effects meta-analysis found that rare (MAF <1%) missense variants in the tail domain of NEFH increase ALS risk (OR 4.55, 95% CI 2.13–9.71, p < 0.0001). In Project MinE, ultrarare NEFH variants increased ALS risk (OR 1.37 95% CI 1.14–1.63, p = 0.0007), with rod domain variants (mostly intronic) appearing to drive the association (OR 1.45 95% CI 1.18–1.77, pMadsen–Browning = 0.0007, pSKAT-O = 0.003). While in the tail domain, ultrarare (MAF <0.1%) pathogenic missense variants were also associated with higher risk of ALS (OR 1.94, 95% CI 0.86–4.37, pMadsen–Browning = 0.039), supporting the meta-analysis results. Finally, several tail in-frame deletions were also found to affect disease risk, however, both protective and pathogenic deletions were found in this domain, highlighting an intricated architecture that requires further investigation. Interpretation: We showed that NEFH tail missense and in-frame deletion variants, and intronic rod variants are risk factors for ALS. However, they are not variants of large effect, and their functional impact needs to be clarified in further studies. Therefore, their inclusion in routine genetic screening panels should be reconsidered.

Published
2024
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35. European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD)

Author

Neurologen, Projectafdeling ALS, Brain, Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole Bjørn, van den Berg, Leonard H., Villanueva, Gemma, Weber, Markus, Neurologen, Projectafdeling ALS, Brain, Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole Bjørn, van den Berg, Leonard H., Villanueva, Gemma, and Weber, Markus

Published
2024

36. Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study

Author

Neurologen, Projectafdeling ALS, Brain, van den Berg, Leonard H., Rothstein, Jeffrey D., Shaw, Pamela J., Babu, Suma, Benatar, Michael, Bucelli, Robert C., Genge, Angela, Glass, Jonathan D., Hardiman, Orla, Libri, Vincenzo, Mobach, Theodore, Oskarsson, Björn, Pattee, Gary L., Ravits, John, Shaw, Christopher E., Weber, Markus, Zinman, Lorne, Jafar-nejad, Paymaan, Rigo, Frank, Lin, Luan, Ferguson, Toby A., Gotter, Anthony L., Graham, Danielle, Monine, Michael, Inra, Jennifer, Sinks, Susie, Eraly, Satish, Garafalo, Steve, Fradette, Stephanie, Neurologen, Projectafdeling ALS, Brain, van den Berg, Leonard H., Rothstein, Jeffrey D., Shaw, Pamela J., Babu, Suma, Benatar, Michael, Bucelli, Robert C., Genge, Angela, Glass, Jonathan D., Hardiman, Orla, Libri, Vincenzo, Mobach, Theodore, Oskarsson, Björn, Pattee, Gary L., Ravits, John, Shaw, Christopher E., Weber, Markus, Zinman, Lorne, Jafar-nejad, Paymaan, Rigo, Frank, Lin, Luan, Ferguson, Toby A., Gotter, Anthony L., Graham, Danielle, Monine, Michael, Inra, Jennifer, Sinks, Susie, Eraly, Satish, Garafalo, Steve, and Fradette, Stephanie

Published
2024

37. Remote monitoring of amyotrophic lateral sclerosis using wearable sensors detects differences in disease progression and survival: a prospective cohort study

Author

Projectafdeling ALS, ALS Onderzoeksbureau, Opleiding Neurologie, Neurologen, Brain, Datamanagement Team 1, van Unnik, Jordi W.J., Meyjes, Myrte, Janse van Mantgem, Mark R., van den Berg, Leonard H., van Eijk, Ruben P.A., Projectafdeling ALS, ALS Onderzoeksbureau, Opleiding Neurologie, Neurologen, Brain, Datamanagement Team 1, van Unnik, Jordi W.J., Meyjes, Myrte, Janse van Mantgem, Mark R., van den Berg, Leonard H., and van Eijk, Ruben P.A.

Published
2024

38. Revisiting distinct nerve excitability patterns in patients with amyotrophic lateral sclerosis

Author

Projectafdeling ALS, Neurologen, Brain, Team Ontwikkeling MTKF, Stikvoort García, Diederik J L, Goedee, H Stephan, van Eijk, Ruben P A, van Schelven, Leonard J, van den Berg, Leonard H, Sleutjes, Boudewijn T H M, Projectafdeling ALS, Neurologen, Brain, Team Ontwikkeling MTKF, Stikvoort García, Diederik J L, Goedee, H Stephan, van Eijk, Ruben P A, van Schelven, Leonard J, van den Berg, Leonard H, and Sleutjes, Boudewijn T H M

Published
2024

39. The ALSFRS-R Summit: a global call to action on the use of the ALSFRS-R in ALS clinical trials

Author

Projectafdeling ALS, Brain, ALS Trial team, Neurologen, Genge, Angela, Cedarbaum, Jesse M., Shefner, Jeremy, Chio, Adriano, Al-Chalabi, Ammar, Van Damme, Philip, McDermott, Chris, Glass, Jonathan, Berry, James, van Eijk, Ruben P.A., Fournier, Christina, Grosskreutz, Julian, Andrews, Jinsy, Bertone, Vanessa, Bunte, Tommy M., Couillard, Mathias, Cummings, Cathy, Kittle, Gale, Polzer, John, Salmon, Kristiana, Straub, Corey, van den Berg, Leonard H., Projectafdeling ALS, Brain, ALS Trial team, Neurologen, Genge, Angela, Cedarbaum, Jesse M., Shefner, Jeremy, Chio, Adriano, Al-Chalabi, Ammar, Van Damme, Philip, McDermott, Chris, Glass, Jonathan, Berry, James, van Eijk, Ruben P.A., Fournier, Christina, Grosskreutz, Julian, Andrews, Jinsy, Bertone, Vanessa, Bunte, Tommy M., Couillard, Mathias, Cummings, Cathy, Kittle, Gale, Polzer, John, Salmon, Kristiana, Straub, Corey, and van den Berg, Leonard H.

Published
2024

40. European academy of neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European reference network for neuromuscular diseases (ERN EURO-NMD)

Author

Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole-Bjørn, van den Berg, Leonard H., Villanueva, Gemma, Weber, Markus, Van Damme, Philip, Al-Chalabi, Ammar, Andersen, Peter M., Chiò, Adriano, Couratier, Philippe, De Carvalho, Mamede, Hardiman, Orla, Kuźma-Kozakiewicz, Magdalena, Ludolph, Albert, McDermott, Christopher J., Mora, Jesus S., Petri, Susanne, Probyn, Katrin, Reviers, Evy, Salachas, François, Silani, Vincenzo, Tysnes, Ole-Bjørn, van den Berg, Leonard H., Villanueva, Gemma, and Weber, Markus

Abstract

Background: This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO-NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS). Methods: Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS. Two systematic reviewers from Cochrane Response supported the guideline panel. The working group identified a total of 26 research questions, performed systematic reviews, assessed the quality of the available evidence, and made specific recommendations. Expert consensus statements were provided where insufficient evidence was available. Results: A guideline mapping effort revealed only one other ALS guideline that used GRADE methodology (a National Institute for Health and Care Excellence [NICE] guideline). The available evidence was scarce for many research questions. Of the 26 research questions evaluated, the NICE recommendations could be adapted for 8 questions. Other recommendations required updates of existing systematic reviews or de novo reviews. Recommendations were made on currently available disease-modifying treatments, multidisciplinary care, nutritional and respiratory support, communication aids, psychological support, treatments for common ALS symptoms (e.g., muscle cramps, spasticity, pseudobulbar affect, thick mucus, sialorrhea, pain), and end-of-life management. Conclusions: This update of the guideline using GRADE methodology provides a framework for the management of ALS. The treatment landscape is changing rapidly, and further updates will be prepared when additional evidence becomes available.

Published
2024
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41. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons

Author

Brain, TN groep Pasterkamp, CMM Groep Burgering, Cancer, TN groep Meye, The Neural Circuits Underlying Stress Eating, CMM Sectie Molecular Cancer Research, Neurogenetica, Genetic Risks, Neurologen, Projectafdeling ALS, Translational Neuroscience, Regenerative Medicine and Stem Cells, Zelina, Pavol, de Ruiter, Anna Aster, Kolsteeg, Christy, van Ginneken, Ilona, Vos, Harmjan R, Supiot, Laura F, Burgering, Boudewijn M T, Meye, Frank J, Veldink, Jan H, van den Berg, Leonard H, Pasterkamp, R Jeroen, Brain, TN groep Pasterkamp, CMM Groep Burgering, Cancer, TN groep Meye, The Neural Circuits Underlying Stress Eating, CMM Sectie Molecular Cancer Research, Neurogenetica, Genetic Risks, Neurologen, Projectafdeling ALS, Translational Neuroscience, Regenerative Medicine and Stem Cells, Zelina, Pavol, de Ruiter, Anna Aster, Kolsteeg, Christy, van Ginneken, Ilona, Vos, Harmjan R, Supiot, Laura F, Burgering, Boudewijn M T, Meye, Frank J, Veldink, Jan H, van den Berg, Leonard H, and Pasterkamp, R Jeroen

Published
2024

42. 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

43. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids

Author

TN groep Pasterkamp, Brain, Regenerative Medicine and Stem Cells, TN groep Hol, Projectafdeling SvS, Translational Neuroscience, Cancer, Projectafdeling ALS, Neurologen, Neurogenetica, Genetic Risks, van der Geest, Astrid T, Jakobs, Channa E, Ljubikj, Tijana, Huffels, Christiaan F M, Cañizares Luna, Marta, Vieira de Sá, Renata, Adolfs, Youri, de Wit, Marina, Rutten, Daan H, Kaal, Marthe, Zwartkruis, Maria M, Carcolé, Mireia, Groen, Ewout J N, Hol, Elly M, Basak, Onur, Isaacs, Adrian M, Westeneng, Henk-Jan, van den Berg, Leonard H, Veldink, Jan H, Schlegel, Domino K, Pasterkamp, R Jeroen, TN groep Pasterkamp, Brain, Regenerative Medicine and Stem Cells, TN groep Hol, Projectafdeling SvS, Translational Neuroscience, Cancer, Projectafdeling ALS, Neurologen, Neurogenetica, Genetic Risks, van der Geest, Astrid T, Jakobs, Channa E, Ljubikj, Tijana, Huffels, Christiaan F M, Cañizares Luna, Marta, Vieira de Sá, Renata, Adolfs, Youri, de Wit, Marina, Rutten, Daan H, Kaal, Marthe, Zwartkruis, Maria M, Carcolé, Mireia, Groen, Ewout J N, Hol, Elly M, Basak, Onur, Isaacs, Adrian M, Westeneng, Henk-Jan, van den Berg, Leonard H, Veldink, Jan H, Schlegel, Domino K, and Pasterkamp, R Jeroen

Published
2024

45. 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

46. IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onset

Author

CTI Budding, Infection & Immunity, Opleiding Neurologie, Apotheek Opleiding, Neurologen, CTI Leusen, Cancer, CTI, Brain, Budding, Kevin, Bos, Jeroen W, Dijkxhoorn, Kim, de Zeeuw, Elisabeth, Bloemenkamp, Lauri M, Zekveld, Eva M, Groen, Ewout J N, Jacobs, Bart C, Huizinga, Ruth, Goedee, H Stephan, Cats, Elisabeth A, Leusen, Jeanette H W, van den Berg, Leonard H, Hack, C Erik, van der Pol, W Ludo, CTI Budding, Infection & Immunity, Opleiding Neurologie, Apotheek Opleiding, Neurologen, CTI Leusen, Cancer, CTI, Brain, Budding, Kevin, Bos, Jeroen W, Dijkxhoorn, Kim, de Zeeuw, Elisabeth, Bloemenkamp, Lauri M, Zekveld, Eva M, Groen, Ewout J N, Jacobs, Bart C, Huizinga, Ruth, Goedee, H Stephan, Cats, Elisabeth A, Leusen, Jeanette H W, van den Berg, Leonard H, Hack, C Erik, and van der Pol, W Ludo

Published
2024

47. Validating biomarkers and models for epigenetic inference of alcohol consumption from blood

Author

Maas, Silvana C. E., Vidaki, Athina, Teumer, Alexander, Costeira, Ricardo, Wilson, Rory, van Dongen, Jenny, Beekman, Marian, Völker, Uwe, Grabe, Hans J., Kunze, Sonja, Ladwig, Karl-Heinz, van Meurs, Joyce B. J., Uitterlinden, André G., Voortman, Trudy, Boomsma, Dorret I., Slagboom, P. Eline, van Heemst, Diana, van der Kallen, Carla J. H., van den Berg, Leonard H., Waldenberger, Melanie, Völzke, Henry, Peters, Annette, Bell, Jordana T., Ikram, M. Arfan, Ghanbari, Mohsen, and Kayser, Manfred

Published
2021
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48. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Author

Škorić-Milosavljević, Doris, Tadros, Rafik, Bosada, Fernanda M., Tessadori, Federico, van Weerd, Jan Hendrik, Woudstra, Odilia I., Tjong, Fleur V.Y., Lahrouchi, Najim, Bajolle, Fanny, Cordell, Heather J., Agopian, A.J., Blue, Gillian M., Barge-Schaapveld, Daniela Q.C.M., Gewillig, Marc, Preuss, Christoph, Lodder, Elisabeth M., Barnett, Phil, Ilgun, Aho, Beekman, Leander, van Duijvenboden, Karel, Bokenkamp, Regina, Müller-Nurasyid, Martina, Vliegen, Hubert W., Konings, Thelma C., van Melle, Joost P., van Dijk, Arie P.J., van Kimmenade, Roland R.J., Roos-Hesselink, Jolien W., Sieswerda, Gertjan T., Meijboom, Folkert, Abdul-Khaliq, Hashim, Berger, Felix, Dittrich, Sven, Hitz, Marc-Phillip, Moosmann, Julia, Riede, Frank-Thomas, Schubert, Stephan, Galan, Pilar, Lathrop, Mark, Munter, Hans M., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Evans, Sylvia, Nobrega, Marcelo A., Aneas, Ivy, Radivojkov-Blagojević, Milena, Meitinger, Thomas, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Bouma, Berto J., Chaix, Marie-A., Kline, Jennie, Bassett, Anne S., Andelfinger, Gregor, van der Palen, Roel L.F., Bouvagnet, Patrice, Clur, Sally-Ann B., Breckpot, Jeroen, Kerstjens-Frederikse, Wilhelmina S., Winlaw, David S., Bauer, Ulrike M.M., Mital, Seema, Goldmuntz, Elizabeth, Keavney, Bernard, Bonnet, Damien, Mulder, Barbara J., Tanck, Michael W.T., Bakkers, Jeroen, Christoffels, Vincent M., Boogerd, Cornelis J., Postma, Alex V., and Bezzina, Connie R.

Published
2022
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49. Anti-C2 Antibody ARGX-117 Inhibits Complement in a Disease Model for Multifocal Motor Neuropathy

Author

Budding, Kevin, Johansen, Lill Eva, Van de Walle, Inge, Dijkxhoorn, Kim, de Zeeuw, Elisabeth, Bloemenkamp, Lauri M., Bos, Jeroen W., Jansen, Marc D., Curial, Chantall A.D., Silence, Karen, de Haard, Hans, Blanchetot, Christophe, Van de Ven, Liesbeth, Leusen, Jeanette H.W., Pasterkamp, R. Jeroen, van den Berg, Leonard H., Hack, C. Erik, Boross, Peter, and van der Pol, W. Ludo

Published
2022
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50. 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

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