2,902 results on '"Van Den Berg, Leonard H"'
Search Results
2. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons
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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
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- 2024
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3. ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
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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
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- 2024
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4. IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onset
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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
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- 2024
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5. Attrition and discontinuation in amyotrophic lateral sclerosis clinical trials: a meta-analysis
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van Eijk, Ruben P. A., van Loon, Floris T., van Unnik, Jordi W. J., Weemering, Daphne N., Seitidis, Georgios, Mavridis, Dimitris, van den Berg, Leonard H., and Nikolakopoulos, Stavros
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- 2025
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6. Diagnosing primary lateral sclerosis: a clinico-pathological study
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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.
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- 2025
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7. Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
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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
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Biological Sciences ,Genetics ,Rare Diseases ,Neurosciences ,Neurodegenerative ,Biotechnology ,Human Genome ,Brain Disorders ,ALS ,2.1 Biological and endogenous factors ,Aetiology ,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
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- 2022
8. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
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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
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- 2024
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9. 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
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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
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- 2024
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10. Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial
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Granit, Volkan, Steele, Julie, Levy, Wendy, Paredes, Maria Elena, Hernandez, Jessica, Bilsker, Martin, Szacka, Katarzyna, Ronert, Adam, Jablońska, Dorota, Łuczak, Alina Zuzanna, Chaverri, Delia, Janse van Mantgem, Mark R, Bunte, Tommy M, Broere, Bianca, de Fockert, Arianne, Sanchez-Tejerina, Daniel, Landabaso, Carmen, Calvo, Andrea, Moglia, Cristina, Manera, Umberto, Canosa, Antonio, Vasta, Rosario, Salamone, Paolina, Fuda, Giuseppe, DeMarco, Giovanni, Casale, Federico, ME Forsberg, Karin, Winroth, Ivar, Almgren Stenberg, Erica, Holmgren, Monica, Amador, Maria del Mar, Lenglet, Timothee, Querin, Giorgia, Coudoin, Sylvie, Pavlakis, Pantelis, Holzberg, Shara, Sideri, Riccardo, Marinou, Kalliopi, Czarnecki, Maciej, Ługiewicz, Renata, Biel-Czarnecka, Marta, Boczkowska, Marcelina, Schotte, Caroline, Vynckier, Jan, Van Daele, Sien, Claeys, Thomas, Delmotte, Koen, Swinnen, Bart, Serrien, Anouk, D'Hondt, Ann, Lamaire, Nikita, Debien, Elisa, Jones, Sarah, Vachon, Chris, Grogan, James, Solorzano, Guillermo, Crowell, Allison, Rakocevic, Goran, Wagoner, Mary, Alma, Osmanovic, Flavia, Wiehler, Sonja, Körner, Olivia, Schreiber-Katz, Camilla, Wohnrade, Anastasia, Sarikidi, Carola, Kassebaum, Chantal, Fischer, Adamo, Ashley, Turcotte, Nicole, Duncan, Jessie, Turner, Ivone, Elman, Lauren, Massie, Rami, Berube, Maxime, Saunders, Natalie, Salmon, Kristiana, Foucher, Juliette, Agessandro, Abrahao, Shirley, Pham, Jahan, Mookshah, Phung, Liane, Statland, Jeffrey, Jawdat, Omar, Dimachkie, Mazen, Pasnoor, Mamatha, Farmakidis, Constantine, Heim, Andrew, Lillig, Katie, Lackey, Alyssa, Weber, Markus, Kurz, Martina, Levine, Todd, 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, and Sundgreen, Claus
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- 2024
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11. Genetic characterization of primary lateral sclerosis
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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.
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- 2023
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12. Remote monitoring of amyotrophic lateral sclerosis using wearable sensors detects differences in disease progression and survival: a prospective cohort study
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van Unnik, Jordi W.J., Meyjes, Myrte, Janse van Mantgem, Mark R., van den Berg, Leonard H., and van Eijk, Ruben P.A.
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- 2024
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13. Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3
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Stam, Marloes, Tan, Harold H.G., Schmidt, Ruben, van den Heuvel, Martijn P., van den Berg, Leonard H., Wadman, Renske I., and van der Pol, W. Ludo
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- 2024
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14. Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease
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Holdom, Cory J., van Unnik, Jordi W. J., van Eijk, Ruben P. A., van den Berg, Leonard H., Henderson, Robert D., Ngo, Shyuan T., and Steyn, Frederik J.
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- 2023
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15. 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
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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
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- 2023
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16. Multifocal motor neuropathy is not associated with altered innate immune responses to endotoxin
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Bos, Jeroen W., Groen, Ewout J.N., Budding, Kevin, Delemarre, Eveline M., Goedee, H. Stephan, Knol, Edward F., van den Berg, Leonard H., and van der Pol, W. Ludo
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- 2023
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17. Frequency of euthanasia, factors associated with end-of-life practices, and quality of end-of-life care in patients with amyotrophic lateral sclerosis in the Netherlands: a population-based cohort study
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van Eenennaam, Remko M, Kruithof, Willeke, Beelen, Anita, Bakker, Leonhard A, van Eijk, Ruben P A, Maessen, Maud, Baardman, Joost F, Visser-Meily, Johanna M A, Veldink, Jan H, and van den Berg, Leonard H
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- 2023
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18. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
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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
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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.
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- 2020
19. Addressing heterogeneity in amyotrophic lateral sclerosis CLINICAL TRIALS.
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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
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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.
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- 2020
20. The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases
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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
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- 2023
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21. Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease: an international survey
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Helleman, Jochem, Johnson, Barbara, Holdom, Cory, Hobson, Esther, Murray, Deirdre, Steyn, Frederik J., Ngo, Shyuan T., Henders, Anjali, Lokeshappa, Madhura B., Visser-Meily, Johanna M. A., van den Berg, Leonard H., Hardiman, Orla, Beelen, Anita, McDermott, Chris, and van Eijk, Ruben P. A.
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- 2022
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22. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
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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.
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- 2023
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23. Feasibility and tolerability of multimodal peripheral electrophysiological techniques in a cohort of patients with spinal muscular atrophy
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Ros, Leandra A.A., Sleutjes, Boudewijn T.H.M., Stikvoort García, Diederik J.L., Goedee, H. Stephan, Asselman, Fay-Lynn, van den Berg, Leonard H., van der Pol, W. Ludo, and Wadman, Renske I.
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- 2023
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24. Home-monitoring of vital capacity in people with a motor neuron disease
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Helleman, Jochem, Bakers, Jaap N. E., Pirard, Evelien, van den Berg, Leonard H., Visser-Meily, Johanna M. A., and Beelen, Anita
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- 2022
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25. Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials
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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
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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.
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- 2019
26. 10Kin1day: A Bottom-Up Neuroimaging Initiative
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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
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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.
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- 2019
27. Joint modeling of endpoints can be used to answer various research questions in randomized clinical trials
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van Eijk, Ruben P.A., Roes, Kit C.B., van den Berg, Leonard H., and Lu, Ying
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- 2022
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28. Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
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Eitan, Chen, Siany, Aviad, Barkan, Elad, Olender, Tsviya, van Eijk, Kristel R., Moisse, Matthieu, Farhan, Sali M. K., Danino, Yehuda M., Yanowski, Eran, Marmor-Kollet, Hagai, Rivkin, Natalia, Yacovzada, Nancy Sarah, Hung, Shu-Ting, Cooper-Knock, Johnathan, Yu, Chien-Hsiung, Louis, Cynthia, Masters, Seth L., Kenna, Kevin P., van der Spek, Rick A. A., Sproviero, William, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Jones, Ashley R., Elbaz-Alon, Yael, Cohen, Yahel, Chapnik, Elik, Rothschild, Daphna, Weissbrod, Omer, Beck, Gilad, Ainbinder, Elena, Ben-Dor, Shifra, Werneburg, Sebastian, Schafer, Dorothy P., Brown, Jr, Robert H., Shaw, Pamela J., Van Damme, Philip, van den Berg, Leonard H., Phatnani, Hemali, Segal, Eran, Ichida, Justin K., Al-Chalabi, Ammar, Veldink, Jan H., and Hornstein, Eran
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- 2022
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29. Genetic variants associated with longitudinal changes in brain structure across the lifespan
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Brouwer, Rachel M., Klein, Marieke, Grasby, Katrina L., Schnack, Hugo G., Jahanshad, Neda, Teeuw, Jalmar, Thomopoulos, Sophia I., Sprooten, Emma, Franz, Carol E., Gogtay, Nitin, Kremen, William S., Panizzon, Matthew S., Olde Loohuis, Loes M., Whelan, Christopher D., Aghajani, Moji, Alloza, Clara, Alnæs, Dag, Artiges, Eric, Ayesa-Arriola, Rosa, Barker, Gareth J., Bastin, Mark E., Blok, Elisabet, Bøen, Erlend, Breukelaar, Isabella A., Bright, Joanna K., Buimer, Elizabeth E. L., Bülow, Robin, Cannon, Dara M., Ciufolini, Simone, Crossley, Nicolas A., Damatac, Christienne G., Dazzan, Paola, de Mol, Casper L., de Zwarte, Sonja M. C., Desrivières, Sylvane, Díaz-Caneja, Covadonga M., Doan, Nhat Trung, Dohm, Katharina, Fröhner, Juliane H., Goltermann, Janik, Grigis, Antoine, Grotegerd, Dominik, Han, Laura K. M., Harris, Mathew A., Hartman, Catharina A., Heany, Sarah J., Heindel, Walter, Heslenfeld, Dirk J., Hohmann, Sarah, Ittermann, Bernd, Jansen, Philip R., Janssen, Joost, Jia, Tianye, Jiang, Jiyang, Jockwitz, Christiane, Karali, Temmuz, Keeser, Daniel, Koevoets, Martijn G. J. C., Lenroot, Rhoshel K., Malchow, Berend, Mandl, René C. W., Medel, Vicente, Meinert, Susanne, Morgan, Catherine A., Mühleisen, Thomas W., Nabulsi, Leila, Opel, Nils, de la Foz, Víctor Ortiz-García, Overs, Bronwyn J., Paillère Martinot, Marie-Laure, Redlich, Ronny, Marques, Tiago Reis, Repple, Jonathan, Roberts, Gloria, Roshchupkin, Gennady V., Setiaman, Nikita, Shumskaya, Elena, Stein, Frederike, Sudre, Gustavo, Takahashi, Shun, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, van der Lugt, Aad, van Haren, Neeltje E. M., Wardlaw, Joanna M., Wen, Wei, Westeneng, Henk-Jan, Wittfeld, Katharina, Zhu, Alyssa H., Zugman, Andre, Armstrong, Nicola J., Bonfiglio, Gaia, Bralten, Janita, Dalvie, Shareefa, Davies, Gail, Di Forti, Marta, Ding, Linda, Donohoe, Gary, Forstner, Andreas J., Gonzalez-Peñas, Javier, Guimaraes, Joao P. O. F. T., Homuth, Georg, Hottenga, Jouke-Jan, Knol, Maria J., Kwok, John B. J., Le Hellard, Stephanie, Mather, Karen A., Milaneschi, Yuri, Morris, Derek W., Nöthen, Markus M., Papiol, Sergi, Rietschel, Marcella, Santoro, Marcos L., Steen, Vidar M., Stein, Jason L., Streit, Fabian, Tankard, Rick M., Teumer, Alexander, van ‘t Ent, Dennis, van der Meer, Dennis, van Eijk, Kristel R., Vassos, Evangelos, Vázquez-Bourgon, Javier, Witt, Stephanie H., Adams, Hieab H. H., Agartz, Ingrid, Ames, David, Amunts, Katrin, Andreassen, Ole A., Arango, Celso, Banaschewski, Tobias, Baune, Bernhard T., Belangero, Sintia I., Bokde, Arun L. W., Boomsma, Dorret I., Bressan, Rodrigo A., Brodaty, Henry, Buitelaar, Jan K., Cahn, Wiepke, Caspers, Svenja, Cichon, Sven, Crespo-Facorro, Benedicto, Cox, Simon R., Dannlowski, Udo, Elvsåshagen, Torbjørn, Espeseth, Thomas, Falkai, Peter G., Fisher, Simon E., Flor, Herta, Fullerton, Janice M., Garavan, Hugh, Gowland, Penny A., Grabe, Hans J., Hahn, Tim, Heinz, Andreas, Hillegers, Manon, Hoare, Jacqueline, Hoekstra, Pieter J., Ikram, Mohammad A., Jackowski, Andrea P., Jansen, Andreas, Jönsson, Erik G., Kahn, Rene S., Kircher, Tilo, Korgaonkar, Mayuresh S., Krug, Axel, Lemaitre, Herve, Malt, Ulrik F., Martinot, Jean-Luc, McDonald, Colm, Mitchell, Philip B., Muetzel, Ryan L., Murray, Robin M., Nees, Frauke, Nenadić, Igor, Oosterlaan, Jaap, Ophoff, Roel A., Pan, Pedro M., Penninx, Brenda W. J. H., Poustka, Luise, Sachdev, Perminder S., Salum, Giovanni A., Schofield, Peter R., Schumann, Gunter, Shaw, Philip, Sim, Kang, Smolka, Michael N., Stein, Dan J., Trollor, Julian N., van den Berg, Leonard H., Veldink, Jan H., Walter, Henrik, Westlye, Lars T., Whelan, Robert, White, Tonya, Wright, Margaret J., Medland, Sarah E., Franke, Barbara, Thompson, Paul M., and Hulshoff Pol, Hilleke E.
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- 2022
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30. REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS.
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Rooney, James, Murray, Deirdre, Meldrum, Dara, Al-Chalabi, Ammar, Bunte, Tommy, Chiwera, Theresa, Choudhury, Mutahhara, Chio, Adriano, Fenton, Lauren, Fortune, Jennifer, Maidment, Lindsay, Manera, Umberto, McDermott, Christopher J., Meyjes, Myrte, Tattersall, Rachel, Torrieri, Maria Claudia, Van Damme, Philip, Vanderlinden, Elien, Wood, Claire, and van den Berg, Leonard H.
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AMYOTROPHIC lateral sclerosis ,RANDOM effects model ,RESPIRATORY measurements ,VITAL capacity (Respiration) ,RESPIRATORY diseases ,COUGH - Abstract
Objective: To systematically assess decline in respiratory measures in amyotrophic lateral sclerosis (ALS) and to examine the impact of sex, disease onset type and baseline morbidity on progression. Methods: The REVEALS study (Registry of Endpoints and Validated Experiences in ALS) was conducted between April 2018 and February 2021 in six European ALS centers. Slow and forced vital capacity (S/FVC), sniff nasal inspiratory pressure (SNIP), peak cough flow, amyotrophic lateral sclerosis functional rating scale-revised (ALSFRS-R), and respiratory morbidity were collected. Data were analyzed using a Bayesian multiple outcomes random effects model. Results: Two hundred and eighty participants had a median of three assessments (IQR 2.0, 5.0) over a median of 8 months (IQR 2.3, 14.1). There were 974 data collection timepoints. Differences in respiratory measures and rates of decline between disease-onset and sex subgroups were identified. Females had lower scores in all respiratory measures and females with bulbar onset ALS had faster decline compared with other sub-groups. These differences were not detected by the ALSFRS-r respiratory subscale. Dyspnea, orthopnea, and a higher King's stage at baseline were associated with lower respiratory scores throughout follow-up, while having a regular productive cough at baseline was associated with lower peak cough flow scores. Conclusion: Respiratory function declines more quickly in females with ALS compared with males when measured by FVC, SVC, SNIP, or PCF, but not the ALSFRS-R respiratory sub-score. Higher baseline King's staging and the presence of clinical respiratory symptoms at baseline were associated with worse respiratory function. The ALSFRS-R respiratory sub-score is poorly correlated with objective respiratory measurements. [ABSTRACT FROM AUTHOR]
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- 2024
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31. Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
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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.
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- 2022
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32. Cortical and subcortical changes in resting-state neuronal activity and connectivity in early symptomatic ALS and advanced frontotemporal dementia
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Govaarts, Rosanne, Beeldman, Emma, Fraschini, Matteo, Griffa, Alessandra, Engels, Marjolein M.A., van Es, Michael A., Veldink, Jan H., van den Berg, Leonard H., van der Kooi, Anneke J., Pijnenburg, Yolande A.L., de Visser, Marianne, Stam, Cornelis J., Raaphorst, Joost, and Hillebrand, Arjan
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- 2022
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33. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
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Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico C., Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Veldink, Jan H., van den Berg, Leonard H., Van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Jr., Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, and Bezzina, Connie R.
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- 2022
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34. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
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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
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- 2022
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35. 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
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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.
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- 2022
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36. Revisiting distinct nerve excitability patterns in patients with amyotrophic lateral sclerosis
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Stikvoort García, Diederik J L, primary, Goedee, H Stephan, additional, van Eijk, Ruben P A, additional, van Schelven, Leonard J, additional, van den Berg, Leonard H, additional, and Sleutjes, Boudewijn T H M, additional
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- 2024
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37. Advancing disease monitoring of amyotrophic lateral sclerosis with the compound muscle action potential scan
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Sleutjes, Boudewijn T.H.M., Bystrup Jacobsen, Anna, Tankisi, Hatice, Gorkem Sirin, N., Emre Oge, A., Henderson, Robert D., van Doorn, Pieter A., van den Berg, Leonard H., and van Eijk, Ruben P.A.
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- 2021
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38. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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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.
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- 2021
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39. Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study
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Westeneng, Henk-Jan, van Veenhuijzen, Kevin, van der Spek, Rick A, Peters, Susan, Visser, Anne E, van Rheenen, Wouter, Veldink, Jan H, and van den Berg, Leonard H
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- 2021
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40. High-resolution mapping identifies HLA class II associations with multifocal motor neuropathy
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Bos, Jeroen W., Otten, Henny G., Herraets, Ingrid J.T., Goedee, H. Stephan, Cats, E.A., de Hoop, Talitha, Verduijn, Willem, van der Pol, W. Ludo, and van den Berg, Leonard H.
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- 2021
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41. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
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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
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Epidemiology ,Biological Sciences ,Health Sciences ,Genetics ,Human Genome ,Biotechnology ,Aetiology ,2.1 Biological and endogenous factors ,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.
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- 2017
42. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
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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
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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.
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- 2017
43. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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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.
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- 2021
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44. Impact of stimulus duration on motor unit thresholds and alternation in compound muscle action potential scans
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Sleutjes, Boudewijn T.H.M., Ruisch, Janna, Nassi, Thijs E., Buitenweg, Jan R., van Schelven, Leonard J., van den Berg, Leonard H., Franssen, Hessel, and Stephan Goedee, H.
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- 2021
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- View/download PDF
45. Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial
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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
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- 2024
46. 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
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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.
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- 2024
47. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS
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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
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- 2024
48. 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
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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.
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- 2024
49. Trial Participation in Neurodegenerative Diseases: Barriers and Facilitators: A Systematic Review and Meta-Analysis
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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.
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- 2024
50. Cultivating Patient Preferences in ALS Clinical Trials: Reliability and Prognostic Value of the Patient-Ranked Order of Function
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Projectafdeling ALS, Brain, Neurologen, Regenerative Medicine and Stem Cells, van Eijk, Ruben P.A., van den Berg, Leonard H., Lu, Ying, Projectafdeling ALS, Brain, Neurologen, Regenerative Medicine and Stem Cells, van Eijk, Ruben P.A., van den Berg, Leonard H., and Lu, Ying
- Published
- 2024
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