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1. A protocol for scoping reviews on the role of whole-body and dedicated body-part magnetic resonance imaging for assessment of adult and juvenile idiopathic inflammatory myopathies

Author

Essouma, Mickael, de Araujo, Daniel Brito, Day, Jessica, Conticini, Edoardo, Riopel, Mary Anne, Elias, Adriana Maluf, Paula, Vitor Tavares, Omori, Clarissa Harumi, Guimarães, Julio Brandão, Gibson, Daren, Saad-Magalhaes, Claudia, Appenzeller, Simone, Schiffenbauer, Adam, Machado, Pedro M, Feldman, Brian M, Paik, Julie J., Christopher-Stine, Lisa, Rider, Lisa G., Reed, Ann, van der Kooi, Anneke J., Marrani, Edoardo, Naddaf, Elie, Kirkhus, Eva, Sanner, Helga, Bauer-Ventura, Iazsmin, Lilleker, James B, Gupta, Latika, Lucchini, Matteo, Dimachkie, Mazen M, Tolend, Mirkamal, Arabi, Tamima Mohamad Abou, Moghadam-Kia, Siamak, O’Hanlon, Susan, Phaneuf, Susan, Shinjo, Samuel Katsuyuki, and Doria, Andrea Schwarz

Published
2024
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3. Clinical and humoral response after SARS-CoV-2 breakthrough infection in patients receiving immunosuppressant therapy

Author

Stalman, Eileen W., Wieske, Luuk, Keijser, Jim B.D., van Dam, Koos P.J., Kummer, Laura Y.L., Wilbrink, Maarten F., van Kempen, Zoé L.E., Killestein, Joep, Volkers, Adriaan G., Tas, Sander W., Boekel, Laura, Wolbink, Gerrit J., van der Kooi, Anneke J., Raaphorst, Joost, Löwenberg, Mark, Takkenberg, R. Bart, D’Haens, Geert R.A.M., Spuls, Phyllis I., Bekkenk, Marcel W., Musters, Annelie H., Post, Nicoline F., Bosma, Angela L., Hilhorst, Marc L., Vegting, Yosta, Bemelman, Frederique J., Voskuyl, Alexandre E., Broens, Bo, Parra Sanchez, Agner, van Els, Cécile A.C. M., de Wit, Jelle, Rutgers, Abraham, de Leeuw, Karina, Horváth, Barbara, Verschuuren, Jan J.G.M., Ruiter, Annabel M., van Ouwerkerk, Lotte, van der Woude, Diane, Allaart, Renée C.F., Onno Teng, Y.K., van Paassen, Pieter, Busch, Matthias H., Brusse, Esther, van Doorn, Pieter A., Baars, Adája E., Hijnen, Dirkjan, Schreurs, Corine R.G., van der Pol, W. Ludo, Goedee, H. Stephan, Steenhuis, Maurice, Keijzer, Sofie, Cristianawati, Olvi, Brinke, Anja ten, Verstegen, Niels J.M., Zwinderman, Koos A.H., van Ham, S. Marieke, Rispens, Theo, Welkers, Matthijs R., Jonges, Marcel, Eftimov, Filip, and Kuijpers, Taco W.

Published
2024
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4. Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis

Author

Notarnicola, Antonella, Hellstrom, Ceke, Horuluoglu, Begum, Pin, Elisa, Preger, Charlotta, Bonomi, Francesco, De Paepe, Boel, De Bleecker, Jan L., Van der Kooi, Anneke J., De Visser, Marianne, Sacconi, Sabrina, Machado, Pedro, Badrising, Umesh A., Rietveld, Anke, Pruijn, Ger, Rothwell, Simon, Lilleker, James B., Chinoy, Hector, Benveniste, Olivier, Svenungsson, Elisabet, Idborg, Helena, Jakobsson, Per-Johan, Nilsson, Peter, and Lundberg, Ingrid E.

Published
2024
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5. Primary SARS-CoV-2 infection in patients with immune-mediated inflammatory diseases: long-term humoral immune responses and effects on disease activity

Author

van Dam, Koos P. J., Volkers, Adriaan G., Wieske, Luuk, Stalman, Eileen W., Kummer, Laura Y. L., van Kempen, Zoé L. E., Killestein, Joep, Tas, Sander W., Boekel, Laura, Wolbink, Gerrit J., van der Kooi, Anneke J., Raaphorst, Joost, Takkenberg, R. Bart, D’Haens, Geert R. A. M., Spuls, Phyllis I., Bekkenk, Marcel W., Musters, Annelie H., Post, Nicoline F., Bosma, Angela L., Hilhorst, Marc L., Vegting, Yosta, Bemelman, Frederike J., Voskuyl, Alexandre E., Broens, Bo, Sanchez, Agner Parra, van Els, Cécile A. C. M., de Wit, Jelle, Rutgers, Abraham, de Leeuw, Karina, Horváth, Barbara, Verschuuren, Jan J. G. M., Ruiter, Annabel M., van Ouwerkerk, Lotte, van der Woude, Diane, Allaart, Renée C. F., Teng, Y. K. Onno, van Paassen, Pieter, Busch, Matthias H., Jallah, Papay B. P., Brusse, Esther, van Doorn, Pieter A., Baars, Adája E., Hijnen, Dirk Jan, Schreurs, Corine R. G., van der Pol, W. Ludo, Goedee, H. Stephan, Steenhuis, Maurice, Keijzer, Sofie, Keijser, Jim B. D., Cristianawati, Olvi, ten Brinke, Anja, Verstegen, Niels J. M., van Ham, S. Marieke, Rispens, Theo, Kuijpers, Taco W., Löwenberg, Mark, and Eftimov, Filip

Published
2023
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6. mRNA-1273 vaccinated inflammatory bowel disease patients receiving TNF inhibitors develop broad and robust SARS-CoV-2-specific CD8+ T cell responses

Author

van Allaart, Renée CF., Baars, Adája E., Bekkenk, Marcel W., Bemelman, Frederike J., Boekel, Laura, Bos, Amélie V., Bosma, Angela L., Broens, Bo, Brusse, Esther, Busch, Matthias H., Cristianawati, Olvi, van Doorn, Pieter A., Elias, George, van Els, Cécile ACM., van Gils, Marit J., Goedee, H Stephan, Hijnen, Dirk Jan, Hilhorst, Marc L., Horváth, Barbara, Jallah, Papay BP., de Jongh, Rivka, Mirfazeli, Elham S., Musters, Annelie H., Keijser, Jim BD., van Kempen, Zoé LE., Killestein, Joep, Kreher, Christine, de Leeuw, Karina, van der Kooi, Anneke J., van Ouwerkerk, Lotte, van Paassen, Pieter, Cabeza, Virginia Palomares, Parra Sanchez, Agner R., Ludo van der Pol, W., Post, Nicoline F., Raaphorst, Joop, Ruiter, Annabel M., Rutgers, Abraham, Schreurs, Corine RG., Spuls, Phyllis I., Takkenberg, R Bart, Tas, Sander W., Teng, YK Onno, Vegting, Yosta, Verschuuren, Jan JGM., Voskuyl, Alexandre E., de Wit, Jelle, Wolbink, Gerrit J., van der Woude, Diane, Zwinderman, Koos AH., van den Dijssel, Jet, Duurland, Mariël C., Konijn, Veronique AL., Kummer, Laura YL., Hagen, Ruth R., Kuijper, Lisan H., Wieske, Luuk, van Dam, Koos PJ., Stalman, Eileen W., Steenhuis, Maurice, Geerdes, Dionne M., Mok, Juk Yee, Kragten, Angela HM., Menage, Charlotte, Koets, Lianne, Veldhuisen, Barbera, Verstegen, Niels JM., van der Schoot, C Ellen, van Esch, Wim JE., D'Haens, Geert RAM., Löwenberg, Mark, Volkers, Adriaan G., Rispens, Theo, Kuijpers, Taco W., Eftimov, Filip, van Gisbergen, Klaas PJM., van Ham, S Marieke, ten Brinke, Anja, and van de Sandt, Carolien E.

Published
2024
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7. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, 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 HP, 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 AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia

Subjects
Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Prevention, ALS, Neurosciences, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Brain, Cholesterol, Disease Progression, Female, Genome-Wide Association Study, Glutamine, Humans, Male, Mendelian Randomization Analysis, Microsatellite Repeats, Mutation, Neurodegenerative Diseases, Neurons, Quantitative Trait Loci, RNA-Seq, Risk Factors, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.

Published
2021

8. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Author

Wijngaard, Robin, Demidov, German, O’Gorman, Luke, Corominas-Galbany, Jordi, Yaldiz, Burcu, Steyaert, Wouter, de Boer, Elke, Vissers, Lisenka E. L. M., Kamsteeg, Erik-Jan, Pfundt, Rolph, Swinkels, Hilde, den Ouden, Amber, te Paske, Iris B. A. W., de Voer, Richarda M., Faivre, Laurence, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Vitobello, Antonio, Chevarin, Martin, Straub, Volker, Töpf, Ana, van der Kooi, Anneke J., Magrinelli, Francesca, Rocca, Clarissa, Hanna, Michael G., Vandrovcova, Jana, Ossowski, Stephan, Laurie, Steven, and Gilissen, Christian

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

Author

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

Published
2023
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12. Second intravenous immunoglobulin dose in patients with Guillain-Barré syndrome with poor prognosis (SID-GBS): a double-blind, randomised, placebo-controlled trial

Author

Walgaard, Christa, Jacobs, Bart C., Lingsma, Hester F., Steyerberg, Ewout W., Van den Berg, Bianca, Doets, Alexandra Y., Leonhard, Sonja E., Verboon, Christine, Huizinga, Ruth, Drenthen, Judith, Arends, Samuel, Kleine Budde, Ilona, Kleyweg, Ruud P., Kuitwaard, Krista, Van der Meulen, Marjon F.G., Samijn, Johnny P.A., Vermeij, Frederique H., Kuks, Jan B.M., Van Dijk, Gert W., Wirtz, Paul W., Eftimov, Filip, Van der Kooi, Anneke J., Garssen, Marcel P.J., Gijsbers, Cees J., De Rijk, Maarten C., Visser, Leo H., Blom, Roderik J., Linssen, Wim H.J.P., Van der Kooi, Elly L., Verschuuren, Jan J.G.M., Van Koningsveld, Rinske, Dieks, Rita J.G., Gilhuis, H. Job, Jellema, Korné, Van der Ree, Taco C., Bienfait, Henriette M.E., Faber, Karin G., Lovenich, Harry, Van Engelen, Baziel G.M., Groen, Rutger J., Merkies, Ingemar S.J., Van Oosten, Bob W., Van der Pol, W. Ludo, Van der Meulen, Willem D.M., Badrising, Umesh A., Stevens, Martijn, Breukelman, Albert-Jan J., Zwetsloot, Casper P., Van der Graaff, Maaike M., Wohlgemuth, Marielle, Hughes, Richard A.C., Cornblath, David R., Van Doorn, Pieter A., Althingh van Geusau, R.B., Van Boheemen, C.J.M., Bronner, I.M., Feenstra, B., Fokke, C., Hoogendoorn, T.A., Van Houten, R., Hovestad, A., Jansen, P.J.H.W., Keuter, E., Krudde, J., Linn, F.H.H., Lion, J., Manschot, S.M., Mellema, S.J., Molenaar, D.S.M., Nieuwkamp, D.J., Oenema, D.G., Van Oostrom, J.C.H., Van Orshoven, N.P., Van der Ploeg, R.J.O., Polman, S., Ruitenberg, A., Ruts, L., Schyns-Soeterboek, A.J.G.M., Trip, R., Jacobs, Bart C, Lingsma, Hester F, Steyerberg, Ewout W, van den Berg, Bianca, Doets, Alexandra Y, Leonhard, Sonja E, Budde, Ilona Kleine, Kleyweg, Ruud P, van der Meulen, Marjon F G, Samijn, Johnny P A, Vermeij, Frederique H, Kuks, Jan B M, van Dijk, Gert W, Wirtz, Paul W, van der Kooi, Anneke J, Garssen, Marcel P J, Gijsbers, Cees J, de Rijk, Maarten C, Visser, Leo H, Blom, Roderik J, Linssen, Wim H J P, van der Kooi, Elly L, Verschuuren, Jan J G M, van Koningsveld, Rinske, Dieks, Rita J G, Gilhuis, H Job, van der Ree, Taco C, Bienfait, Henriette M E, Faber, Catharina G, van Engelen, Baziel G M, Groen, Rutger J, Merkies, Ingemar S J, van Oosten, Bob W, van der Pol, W Ludo, van der Meulen, Willem D M, Badrising, Umesh A, Breukelman, Albert-Jan J, Zwetsloot, Casper P, van der Graaff, Maaike M, Hughes, Richard A C, Cornblath, David R, and van Doorn, Pieter A

Published
2021
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15. Breakthrough SARS-CoV-2 infections with the delta (B.1.617.2) variant in vaccinated patients with immune-mediated inflammatory diseases using immunosuppressants: a substudy of two prospective cohort studies

Author

de Jongh, Rivka, van de Sandt, Carolien, Kuijper, Lisan, Duurland, Mariel, Hagen, Ruth, van den Dijssel, Jet, Kreher, Christine, Bos, Amelie, Palomares Cabeza, Viriginia, Konijn, Veronique, Elias, George, Vallejo, Juan, van Gils, Marrit, Ashhurst, Tom, Nejentsev, Sergey, Mirfazeli, Elham, Boekel, Laura, Stalman, Eileen W, Wieske, Luuk, Hooijberg, Femke, van Dam, Koos P J, Besten, Yaëlle R, Kummer, Laura Y L, Steenhuis, Maurice, van Kempen, Zoé L E, Killestein, Joep, Volkers, Adriaan G, Tas, Sander W, van der Kooi, Anneke J, Raaphorst, Joost, Löwenberg, Mark, Takkenberg, R Bart, D'Haens, Geert R A M, Spuls, Phyllis I, Bekkenk, Marcel W, Musters, Annelie H, Post, Nicoline F, Bosma, Angela L, Hilhorst, Marc L, Vegting, Yosta, Bemelman, Frederike J, Voskuyl, Alexandre E, Broens, Bo, Parra Sanchez, Agner, van Els, Cécile A C M, de Wit, Jelle, Rutgers, Abraham, de Leeuw, Karina, Horváth, Barbara, Verschuuren, Jan J G M, Ruiter, Annabel M, van Ouwerkerk, Lotte, van der Woude, Diane, Allaart, Cornelia F, Teng, Y K Onno, van Paassen, Pieter, Busch, Matthias H, Jallah, Papay B P, Brusse, Esther, van Doorn, Pieter A, Baars, Adája E, Hijnen, Dirk Jan, Schreurs, Corine R G, van der Pol, W Ludo, Goedee, H Stephan, Vogelzang, Erik H, Leeuw, Maureen, Atiqi, Sadaf, van Vollenhoven, Ronald, Gerritsen, Martijn, van der Horst-Bruinsma, Irene E, Lems, Willem F, Nurmohamed, Mike T, Boers, Maarten, Keijzer, Sofie, Keijser, Jim, Boogaard, Arend, Cristianawati, Olvi, ten Brinke, Anja, Verstegen, Niels J M, Zwinderman, Koos A H, van Ham, S Marieke, Rispens, Theo, Kuijpers, Taco W, Wolbink, Gertjan, and Eftimov, Filip

Published
2022
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17. Risk factors associated with short-term adverse events after SARS-CoV-2 vaccination in patients with immune-mediated inflammatory diseases

Author

Wieske, Luuk, Kummer, Laura Y. L., van Dam, Koos P. J., Stalman, Eileen W., van der Kooi, Anneke J., Raaphorst, Joost, Löwenberg, Mark, Takkenberg, R. Bart, Volkers, Adriaan G., D’Haens, Geert R. A. M., Tas, Sander W., Spuls, Phyllis I., Bekkenk, Marcel W., Musters, Annelie H., Post, Nicoline F., Bosma, Angela L., Hilhorst, Marc L., Vegting, Yosta, Bemelman, Frederike J., Killestein, Joep, van Kempen, Zoé L. E., Voskuyl, Alexandre E., Broens, Bo, Sanchez, Agner Parra, Wolbink, Gertjan, Boekel, Laura, Rutgers, Abraham, de Leeuw, Karina, Horváth, Barbara, Verschuuren, Jan J. G. M., Ruiter, Annabel M., van Ouwerkerk, Lotte, van der Woude, Diane, Allaart, Cornelia F., Teng, Y. K. Onno, van Paassen, Pieter, Busch, Matthias H., Jallah, B. Papay, Brusse, Esther, van Doorn, Pieter A., Baars, Adája E., Hijnen, Dirkjan, Schreurs, Corine R. G., van der Pol, W. Ludo, Goedee, H. Stephan, Steenhuis, Maurice, Rispens, Theo, ten Brinke, Anja, Verstegen, Niels J. M., Zwinderman, Koos A. H., van Ham, S. Marieke, Kuijpers, Taco W., and Eftimov, Filip

Published
2022
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19. Humoral responses after second and third SARS-CoV-2 vaccination in patients with immune-mediated inflammatory disorders on immunosuppressants: a cohort study

Author

de Jongh, R., van de Sandt, C.E., Kuijper, L., Duurland, M., Hagen, R.R., van den Dijssel, J., Kreher, C., Bos, A., Palomares Cabeza, V., Konijn, V.A.L., Elias, G., Vallejo, J.G., van Gils, M.J., Ashhurst, T.M., Nejentsev, S., Mirfazeli, E.S., Wieske, Luuk, van Dam, Koos P J, Steenhuis, Maurice, Stalman, Eileen W, Kummer, Laura Y L, van Kempen, Zoé L E, Killestein, Joep, Volkers, Adriaan G, Tas, Sander W, Boekel, Laura, Wolbink, Gerrit J, van der Kooi, Anneke J, Raaphorst, Joost, Löwenberg, Mark, Takkenberg, R Bart, D'Haens, Geert R A M, Spuls, Phyllis I, Bekkenk, Marcel W, Musters, Annelie H, Post, Nicoline F, Bosma, Angela L, Hilhorst, Marc L, Vegting, Yosta, Bemelman, Frederike J, Voskuyl, Alexandre E, Broens, Bo, Sanchez, Agner Parra, van Els, Cécile A C M, de Wit, Jelle, Rutgers, Abraham, de Leeuw, Karina, Horváth, Barbara, Verschuuren, Jan J G M, Ruiter, Annabel M, van Ouwerkerk, Lotte, van der Woude, Diane, Allaart, Renée C F, Teng, Y K Onno, van Paassen, Pieter, Busch, Matthias H, Jallah, Papay B P, Brusse, Esther, van Doorn, Pieter A, Baars, Adája E, Hijnen, Dirk Jan, Schreurs, Corine R G, van der Pol, W Ludo, Goedee, H Stephan, Keijzer, Sofie, Keijser, Jim B D, Boogaard, Arend, Cristianawati, Olvi, ten Brinke, Anja, Verstegen, Niels J M, Zwinderman, Koos A H, van Ham, S Marieke, Kuijpers, Taco W, Rispens, Theo, and Eftimov, Filip

Published
2022
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21. Oral ribose supplementation in dystroglycanopathy: A single case study

Author

Thewissen, R. M. J., primary, Post, M. A., additional, Maas, D. M., additional, Veizaj, R., additional, Wagenaar, I., additional, Alsady, M., additional, Kools, J., additional, Bouman, K., additional, Zweers, H., additional, Meregalli, P. G., additional, van der Kooi, A. J., additional, van Doorn, P. A., additional, Groothuis, J. T., additional, Lefeber, D. J., additional, and Voermans, N. C., additional

Published
2024
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24. Patient‐reported daily functioning after SARS‐CoV‐2 vaccinations in autoimmune neuromuscular diseases.

Author

van Dam, Koos P. J., Wieske, Luuk, Stalman, Eileen W., Kummer, Laura Y. L., van der Kooi, Anneke J., Raaphorst, Joost, van de Beek, Diederik, Verschuuren, Jan J. G. M., Ruiter, Annabel M., Brusse, Esther, van Doorn, Pieter A., Baars, Adája E., van der Pol, W. Ludo, Goedee, H. Stephan, ten Brinke, Anja, van Ham, S. Marieke, Rispens, Theo, Kuijpers, Taco W., and Eftimov, Filip

Subjects
CHRONIC inflammatory demyelinating polyradiculoneuropathy, MOTOR neuron diseases, NEUROMUSCULAR diseases, CLINICAL deterioration, IDIOPATHIC diseases
Abstract

Background and purpose: There are concerns for safety regarding SARS‐CoV‐2 vaccines for patients with autoimmune neuromuscular disease. We compared daily functioning using disease‐specific patient‐reported outcome measures (PROMs) before and after SARS‐CoV‐2 vaccinations. Methods: In this substudy of a prospective observational cohort study (Target‐to‐B!), patients with myasthenia gravis (MG), chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN), and idiopathic inflammatory myopathy (IIM) vaccinated against SARS‐CoV‐2 were included. Surveys of daily functioning (Myasthenia Gravis Activities of Daily Living, Inflammatory Rasch‐Built Overall Disability Scale, Multifocal Motor Neuropathy Rasch‐Built Overall Disability Scale, and Health Assessment Questionnaire–Disability Index) were sent before first vaccination and every 60 days thereafter for up to 12 months. Regression models were constructed to assess differences in PROM scores related to vaccination, compared to scores unrelated to vaccination. We also assessed the proportion of patients with deterioration of at least the minimal clinically important difference (MCID) between before first vaccination and 60 days thereafter. Results: We included 325 patients (median age = 59 years, interquartile range = 47–67, 156 [48%] female sex), of whom 137 (42%) had MG, 79 (24%) had CIDP, 43 (13%) had MMN, and 66 (20%) had IIM. PROM scores related to vaccination did not differ from scores unrelated to vaccination. In paired PROMs, MCID for deterioration was observed in three of 49 (6%) MG patients, of whom none reported a treatment change. In CIDP, MCID for deterioration was observed in eight of 29 patients (28%), of whom two of eight (25%) reported a treatment change. Conclusions: SARS‐CoV‐2 vaccination had no effect on daily functioning in patients with autoimmune neuromuscular diseases, confirming its safety in these patients. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Clinical and humoral response after SARS-CoV-2 breakthrough infection in patients receiving immunosuppressant therapy

Author

T2B! immunity against SARS-CoV-2 study group, Stalman, Eileen W., Wieske, Luuk, Keijser, Jim B.D., van Dam, Koos P.J., Kummer, Laura Y.L., Wilbrink, Maarten F., van Kempen, Zoé L.E., Killestein, Joep, Volkers, Adriaan G., Tas, Sander W., Boekel, Laura, Wolbink, Gerrit J., van der Kooi, Anneke J., Raaphorst, Joost, Löwenberg, Mark, Takkenberg, R. Bart, D'Haens, Geert R.A.M., Spuls, Phyllis I., Bekkenk, Marcel W., Musters, Annelie H., Post, Nicoline F., Bosma, Angela L., Hilhorst, Marc L., Vegting, Yosta, Bemelman, Frederique J., Voskuyl, Alexandre E., Broens, Bo, Parra Sanchez, Agner, van Els, Cécile A.C.M., de Wit, Jelle, Rutgers, Abraham, de Leeuw, Karina, Horváth, Barbara, Verschuuren, Jan J.G.M., Ruiter, Annabel M., van Ouwerkerk, Lotte, van der Woude, Diane, Allaart, Renée C.F., Onno Teng, Y. K., van Paassen, Pieter, Busch, Matthias H., Brusse, Esther, van Doorn, Pieter A., Baars, Adája E., Hijnen, Dirkjan, Schreurs, Corine R.G., van der Pol, W. Ludo, Goedee, H. Stephan, Steenhuis, Maurice, Keijzer, Sofie, T2B! immunity against SARS-CoV-2 study group, Stalman, Eileen W., Wieske, Luuk, Keijser, Jim B.D., van Dam, Koos P.J., Kummer, Laura Y.L., Wilbrink, Maarten F., van Kempen, Zoé L.E., Killestein, Joep, Volkers, Adriaan G., Tas, Sander W., Boekel, Laura, Wolbink, Gerrit J., van der Kooi, Anneke J., Raaphorst, Joost, Löwenberg, Mark, Takkenberg, R. Bart, D'Haens, Geert R.A.M., Spuls, Phyllis I., Bekkenk, Marcel W., Musters, Annelie H., Post, Nicoline F., Bosma, Angela L., Hilhorst, Marc L., Vegting, Yosta, Bemelman, Frederique J., Voskuyl, Alexandre E., Broens, Bo, Parra Sanchez, Agner, van Els, Cécile A.C.M., de Wit, Jelle, Rutgers, Abraham, de Leeuw, Karina, Horváth, Barbara, Verschuuren, Jan J.G.M., Ruiter, Annabel M., van Ouwerkerk, Lotte, van der Woude, Diane, Allaart, Renée C.F., Onno Teng, Y. K., van Paassen, Pieter, Busch, Matthias H., Brusse, Esther, van Doorn, Pieter A., Baars, Adája E., Hijnen, Dirkjan, Schreurs, Corine R.G., van der Pol, W. Ludo, Goedee, H. Stephan, Steenhuis, Maurice, and Keijzer, Sofie

Abstract

Background: Despite impaired humoral response in patients treated with immunosuppressants (ISPs), recent studies found similar severity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) breakthrough infection compared to controls. One potential explanation is the rapid generation of humoral response on infection, but evidence is lacking. Objectives: We investigated the longitudinal dynamics of the SARS-CoV-2 antibody repertoire after SARS-CoV-2 delta and omicron breakthrough infection in patients with immune-mediated inflammatory diseases (IMIDs) receiving ISP therapy and controls. Methods: As a prospective substudy of the national Target-to-B! (T2B!) consortium, we included IMID patients receiving ISPs therapy and controls who reported SARS-CoV-2 breakthrough infection between July 1, 2021, and April 1, 2022. To get an impression of the dynamics of the antibody repertoire, 3 antibody titers of wild-type RBD, wild-type S, and omicron RBD were measured at 4 time points after SARS-CoV-2 breakthrough infection. Results: We included 302 IMID patients receiving ISPs and 178 controls. Antibody titers increased up to 28 days after breakthrough infection in both groups. However, in IMID patients receiving therapy with anti-CD20 and sphingosine-1 phosphate receptor modulators, antibody titers were considerably lower compared to controls. In the anti-TNF group, we observed slightly lower antibody titers in the early stages and a faster decline of antibodies after infection compared to controls. Breakthrough infections were mostly mild, and hospitalization was required in less than 1% of cases. Conclusions: Most ISPs do not influence the dynamics of the SARS-CoV-2 antibody repertoire and exhibit a rapid recall response with cross-reactive antibody clones toward new virus variants. However, in patients treated with anti-CD20 therapy or sphingosine-1 phosphate receptor modulators, the dynamics were greatly impaired, and to a lesser extent in those who received a

Published
2024

26. Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands

Author

Neurologie, Brain, Deenen, Johanna C.W., Horlings, Corinne G.C., Voermans, Nicol C., van Doorn, Pieter A., Faber, Catharina G., van der Kooi, Anneke J., Kuks, Jan B.M., Notermans, Nicolette C., Visser, Leo H., Broekgaarden, Ria H.A., Horemans, Anja M.C., Verschuuren, Jan J.G.M., Verbeek, André L.M., van Engelen, Baziel G.M., Neurologie, Brain, Deenen, Johanna C.W., Horlings, Corinne G.C., Voermans, Nicol C., van Doorn, Pieter A., Faber, Catharina G., van der Kooi, Anneke J., Kuks, Jan B.M., Notermans, Nicolette C., Visser, Leo H., Broekgaarden, Ria H.A., Horemans, Anja M.C., Verschuuren, Jan J.G.M., Verbeek, André L.M., and van Engelen, Baziel G.M.

Published
2024

27. Population-based incidence rates of 15 neuromuscular disorders:a nationwide capture-recapture study in the Netherlands

Author

Deenen, Johanna C.W., Horlings, Corinne G.C., Voermans, Nicol C., van Doorn, Pieter A., Faber, Catharina G., van der Kooi, Anneke J., Kuks, Jan B.M., Notermans, Nicolette C., Visser, Leo H., Broekgaarden, Ria H.A., Horemans, Anja M.C., Verschuuren, Jan J.G.M., Verbeek, André L.M., van Engelen, Baziel G.M., Deenen, Johanna C.W., Horlings, Corinne G.C., Voermans, Nicol C., van Doorn, Pieter A., Faber, Catharina G., van der Kooi, Anneke J., Kuks, Jan B.M., Notermans, Nicolette C., Visser, Leo H., Broekgaarden, Ria H.A., Horemans, Anja M.C., Verschuuren, Jan J.G.M., Verbeek, André L.M., and van Engelen, Baziel G.M.

Abstract

Most neuromuscular disorders are rare, but as a group they are not. Nevertheless, epidemiological data of specific neuromuscular disorders are scarce, especially on the incidence. We applied a capture-recapture approach to a nationwide hospital-based dataset and a patients association-based dataset to estimate the annual incidence rates for fifteen neuromuscular disorders in the Netherlands. The annual incidence rates per 100,000 population varied from 0.03/100,000 (95% CI 0.00 ‒ 0.06) for glycogenosis type 5 to 0.9/100,000 (95% confidence interval 0.7 ‒ 1.0) for myotonic dystrophy type 1. The summed annual incidence rate of these disorders was 4.1 per 100,000 per population. Nine of the provided incidence rates were previously unavailable, three rates were similar to the rates in the literature, and three rates were generally higher compared to previous findings but with overlapping confidence intervals. This study provides nationwide incidence rates for fifteen neuromuscular disorders predominantly diagnosed in adult life, nine which were previously unavailable. The capture-recapture approach provided estimates of the total number of individuals with neuromuscular disorders. To complete the gaps in the knowledge of disease frequencies, there is a need for estimates from an automated, obligatory data collection system of diagnosed and newly diagnosed patients with neuromuscular disorders.

Published
2024

28. Oral ribose supplementation in dystroglycanopathy:A single case study

Author

Thewissen, R. M.J., Post, M. A., Maas, D. M., Veizaj, R., Wagenaar, I., Alsady, M., Kools, J., Bouman, K., Zweers, H., Meregalli, P. G., van der Kooi, A. J., van Doorn, P. A., Groothuis, J. T., Lefeber, D. J., Voermans, N. C., Thewissen, R. M.J., Post, M. A., Maas, D. M., Veizaj, R., Wagenaar, I., Alsady, M., Kools, J., Bouman, K., Zweers, H., Meregalli, P. G., van der Kooi, A. J., van Doorn, P. A., Groothuis, J. T., Lefeber, D. J., and Voermans, N. C.

Abstract

Three forms of muscular dystrophy-dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain-containing protein (ISPD), fukutin-related protein (FKRP), and fukutin (FKTN) genes. The aforementioned enzymes are required for generation of the ribitol phosphate linkage in the O-glycan of alpha-dystroglycan. Mild cases of dystroglycanopathy present with slowly progressive muscle weakness, while in severe cases the eyes and brain are also involved. Previous research showed that ribose increased the intracellular concentrations of cytidine diphosphate-ribitol (CDP-ribitol) and had a therapeutic effect. Here, we report the safety and effects of oral ribose supplementation during 6 months in a patient with limb girdle muscular dystrophy type 2I (LGMD2I) due to a homozygous FKRP mutation. Ribose was well tolerated in doses of 9 g or 18 g/day. Supplementation with 18 g of ribose resulted in a decrease of creatine kinase levels of 70%. Moreover, metabolomics showed a significant increase in CDP-ribitol levels with 18 g of ribose supplementation (p < 0.001). Although objective improvement in clinical and patient-reported outcome measures was not observed, the patient reported subjective improvement of muscle strength, fatigue, and pain. This case study indicates that ribose supplementation in patients with dystroglycanopathy is safe and highlights the importance for future studies regarding its potential effects.

Published
2024

29. Electrodiagnostic subtyping in Guillain–Barré syndrome patients in the International Guillain–Barré Outcome Study

Author

Arends, S, Drenthen, J, de Koning, L, van den Bergh, P, Hadden, R, Kuwabara, S, Reisin, R, Shahrizaila, N, Ajroud-Driss, S, Antonini, G, Attarian, S, Balducci, C, Bertorini, T, Brannagan, T, Cavaletti, G, Chao, C, Chavada, G, Dillmann, K, Dimachkie, M, Galassi, G, Gutierrez-Gutierrez, G, Harbo, T, Islam, B, Islam, Z, Katzberg, H, Kusunoki, S, Manganelli, F, Miller, J, Pardo, J, Pereon, Y, Rajabally, Y, Sindrup, S, Stettner, M, Uncini, A, Verhamme, C, Vytopil, M, Waheed, W, Jacobs, B, Cornblath, D, Addington, J, Badrising, U, Barroso, F, Bateman, K, Bella, I, Benedetti, L, van den Berg, B, Bhavaraju-Sanka, R, Briani, C, Buermann, J, Busby, M, Butterworth, S, Casasnovas, C, Chen, S, Claeys, K, Conti, E, Cosgrove, J, Dalakas, M, van Damme, P, Dardiotis, E, Davidson, A, Doets, A, van Doorn, P, Echaniz-Laguna, A, Eftimov, F, Faber, K, Fazio, R, Feasby, T, Fehmi, J, Fokke, C, Fujioka, T, Fulgenzi, E, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, J, Goldstein, J, Gorson, K, Goyal, N, Granit, V, Gutmann, L, Hartung, H, Holt, J, Hsieh, S, Htut, M, Hughes, R, Jerico-Pascual, I, Kaida, K, Karafiath, S, Khoshnoodi, M, Kiers, L, Kleiweg, R, Kokubun, N, Kolb, N, van Koningsveld, R, van der Kooi, A, Kramers, H, Kuitwaard, K, Kwan, J, Ladha, S, Lassen, L, Lawson, V, Lehmann, H, Cejas, L, Leonhard, S, Luijten, L, Lunn, M, Manji, H, Marfia, G, Infante, C, Martin-Aguilar, L, Martinez-Hernandez, E, Mataluni, G, Mattiazzi, M, Mcdermott, C, Meekins, G, Mohammad, Q, Monges, S, de la Tassa, G, Nascimbene, C, Nobile-Orazio, E, Nowak, R, Osei-Bonsu, M, Pelouto, F, Pulley, M, Gutierrez, L, Reddel, S, van der Ree, T, Rinaldi, S, Ripellino, P, Roberts, R, Rojas-Marcos, I, Roodbol, J, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Schenone, A, Tous, M, Sheikh, K, Silvestri, N, Sundrup, S, Sommer, C, Stein, B, Stino, A, Thomma, R, Twydell, P, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Walgaard, C, Wang, Y, Willison, H, Wirtz, P, van Woerkom, M, Zivkovic, S, Arends S., Drenthen J., de Koning L., van den Bergh P., Hadden R. D. M., Kuwabara S., Reisin R. C., Shahrizaila N., Ajroud-Driss S., Antonini G., Attarian S., Balducci C., Bertorini T., Brannagan T. H., Cavaletti G., Chao C. -C., Chavada G., Dillmann K. -U., Dimachkie M. M., Galassi G., Gutierrez-Gutierrez G., Harbo T., Islam B., Islam Z., Katzberg H., Kusunoki S., Manganelli F., Miller J. A. L., Pardo J., Pereon Y., Rajabally Y. A., Sindrup S., Stettner M., Uncini A., Verhamme C., Vytopil M., Waheed W., Jacobs B. C., Cornblath D. R., Addington J. M., Badrising U. A., Barroso F. A., Bateman K., Bella I., Benedetti L., van den Berg B., Bhavaraju-Sanka R., Briani C., Buermann J., Busby M., Butterworth S., Casasnovas C., Chen S., Claeys K., Conti E., Cosgrove J. S., Dalakas M., van Damme P., Dardiotis E., Davidson A., Doets A., van Doorn P., Echaniz-Laguna A., Eftimov F., Faber K. G., Fazio R., Feasby T. E., Fehmi J., Fokke C., Fujioka T., Fulgenzi E., Garssen M. P. J., Gijsbers C. J., Gilchrist J. M., Gilhuis J., Goldstein J. M., Gorson K. C., Goyal N., Granit V., Gutmann L., Hartung H. -P., Holt J. K. L., Hsieh S. -T., Htut M., Hughes R. A. C., Jerico-Pascual I., Kaida K., Karafiath S., Khoshnoodi M. A., Kiers L., Kleiweg R. P., Kokubun N., Kolb N. A., van Koningsveld R., van der Kooi A. J., Kramers H., Kuitwaard K., Kwan J. Y., Ladha S. S., Lassen L. L., Lawson V. H., Lehmann H., Cejas L. L., Leonhard S. E., Luijten L., Lunn M. P. T., Manji H., Marfia G. A., Infante C. M., Martin-Aguilar L., Martinez-Hernandez E., Mataluni G., Mattiazzi M., McDermott C., Meekins G., Mohammad Q. D., Monges S., de la Tassa G. M., Nascimbene C., Nobile-Orazio E., Nowak R. J., Osei-Bonsu M., Pelouto F., Pulley M. T., Gutierrez L. Q., Reddel S. W., van der Ree T., Rinaldi S., Ripellino P., Roberts R. C., Rojas-Marcos I., Roodbol J., Rudnicki S. A., Sachs G. M., Samijn J. P. A., Santoro L., Schenone A., Tous M. J. S., Sheikh K. A., Silvestri N. J., Sundrup S. H., Sommer C., Stein B., Stino A. M., Thomma R. C. M., Twydell P., Varrato J. D., Vermeij F. H., Verschuuren J., Visser L. H., Walgaard C., Wang Y., Willison H. J., Wirtz P. W., van Woerkom M., Zivkovic S. A., Arends, S, Drenthen, J, de Koning, L, van den Bergh, P, Hadden, R, Kuwabara, S, Reisin, R, Shahrizaila, N, Ajroud-Driss, S, Antonini, G, Attarian, S, Balducci, C, Bertorini, T, Brannagan, T, Cavaletti, G, Chao, C, Chavada, G, Dillmann, K, Dimachkie, M, Galassi, G, Gutierrez-Gutierrez, G, Harbo, T, Islam, B, Islam, Z, Katzberg, H, Kusunoki, S, Manganelli, F, Miller, J, Pardo, J, Pereon, Y, Rajabally, Y, Sindrup, S, Stettner, M, Uncini, A, Verhamme, C, Vytopil, M, Waheed, W, Jacobs, B, Cornblath, D, Addington, J, Badrising, U, Barroso, F, Bateman, K, Bella, I, Benedetti, L, van den Berg, B, Bhavaraju-Sanka, R, Briani, C, Buermann, J, Busby, M, Butterworth, S, Casasnovas, C, Chen, S, Claeys, K, Conti, E, Cosgrove, J, Dalakas, M, van Damme, P, Dardiotis, E, Davidson, A, Doets, A, van Doorn, P, Echaniz-Laguna, A, Eftimov, F, Faber, K, Fazio, R, Feasby, T, Fehmi, J, Fokke, C, Fujioka, T, Fulgenzi, E, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, J, Goldstein, J, Gorson, K, Goyal, N, Granit, V, Gutmann, L, Hartung, H, Holt, J, Hsieh, S, Htut, M, Hughes, R, Jerico-Pascual, I, Kaida, K, Karafiath, S, Khoshnoodi, M, Kiers, L, Kleiweg, R, Kokubun, N, Kolb, N, van Koningsveld, R, van der Kooi, A, Kramers, H, Kuitwaard, K, Kwan, J, Ladha, S, Lassen, L, Lawson, V, Lehmann, H, Cejas, L, Leonhard, S, Luijten, L, Lunn, M, Manji, H, Marfia, G, Infante, C, Martin-Aguilar, L, Martinez-Hernandez, E, Mataluni, G, Mattiazzi, M, Mcdermott, C, Meekins, G, Mohammad, Q, Monges, S, de la Tassa, G, Nascimbene, C, Nobile-Orazio, E, Nowak, R, Osei-Bonsu, M, Pelouto, F, Pulley, M, Gutierrez, L, Reddel, S, van der Ree, T, Rinaldi, S, Ripellino, P, Roberts, R, Rojas-Marcos, I, Roodbol, J, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Schenone, A, Tous, M, Sheikh, K, Silvestri, N, Sundrup, S, Sommer, C, Stein, B, Stino, A, Thomma, R, Twydell, P, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Walgaard, C, Wang, Y, Willison, H, Wirtz, P, van Woerkom, M, Zivkovic, S, Arends S., Drenthen J., de Koning L., van den Bergh P., Hadden R. D. M., Kuwabara S., Reisin R. C., Shahrizaila N., Ajroud-Driss S., Antonini G., Attarian S., Balducci C., Bertorini T., Brannagan T. H., Cavaletti G., Chao C. -C., Chavada G., Dillmann K. -U., Dimachkie M. M., Galassi G., Gutierrez-Gutierrez G., Harbo T., Islam B., Islam Z., Katzberg H., Kusunoki S., Manganelli F., Miller J. A. L., Pardo J., Pereon Y., Rajabally Y. A., Sindrup S., Stettner M., Uncini A., Verhamme C., Vytopil M., Waheed W., Jacobs B. C., Cornblath D. R., Addington J. M., Badrising U. A., Barroso F. A., Bateman K., Bella I., Benedetti L., van den Berg B., Bhavaraju-Sanka R., Briani C., Buermann J., Busby M., Butterworth S., Casasnovas C., Chen S., Claeys K., Conti E., Cosgrove J. S., Dalakas M., van Damme P., Dardiotis E., Davidson A., Doets A., van Doorn P., Echaniz-Laguna A., Eftimov F., Faber K. G., Fazio R., Feasby T. E., Fehmi J., Fokke C., Fujioka T., Fulgenzi E., Garssen M. P. J., Gijsbers C. J., Gilchrist J. M., Gilhuis J., Goldstein J. M., Gorson K. C., Goyal N., Granit V., Gutmann L., Hartung H. -P., Holt J. K. L., Hsieh S. -T., Htut M., Hughes R. A. C., Jerico-Pascual I., Kaida K., Karafiath S., Khoshnoodi M. A., Kiers L., Kleiweg R. P., Kokubun N., Kolb N. A., van Koningsveld R., van der Kooi A. J., Kramers H., Kuitwaard K., Kwan J. Y., Ladha S. S., Lassen L. L., Lawson V. H., Lehmann H., Cejas L. L., Leonhard S. E., Luijten L., Lunn M. P. T., Manji H., Marfia G. A., Infante C. M., Martin-Aguilar L., Martinez-Hernandez E., Mataluni G., Mattiazzi M., McDermott C., Meekins G., Mohammad Q. D., Monges S., de la Tassa G. M., Nascimbene C., Nobile-Orazio E., Nowak R. J., Osei-Bonsu M., Pelouto F., Pulley M. T., Gutierrez L. Q., Reddel S. W., van der Ree T., Rinaldi S., Ripellino P., Roberts R. C., Rojas-Marcos I., Roodbol J., Rudnicki S. A., Sachs G. M., Samijn J. P. A., Santoro L., Schenone A., Tous M. J. S., Sheikh K. A., Silvestri N. J., Sundrup S. H., Sommer C., Stein B., Stino A. M., Thomma R. C. M., Twydell P., Varrato J. D., Vermeij F. H., Verschuuren J., Visser L. H., Walgaard C., Wang Y., Willison H. J., Wirtz P. W., van Woerkom M., and Zivkovic S. A.

Abstract

Background and purpose: Various electrodiagnostic criteria have been developed in Guillain–Barré syndrome (GBS). Their performance in a broad representation of GBS patients has not been evaluated. Motor conduction data from the International GBS Outcome Study (IGOS) cohort were used to compare two widely used criterion sets and relate these to diagnostic amyotrophic lateral sclerosis criteria. Methods: From the first 1500 patients in IGOS, nerve conduction studies from 1137 (75.8%) were available for the current study. These patients were classified according to nerve conduction studies criteria proposed by Hadden and Rajabally. Results: Of the 1137 studies, 68.3% (N = 777) were classified identically according to criteria by Hadden and Rajabally: 111 (9.8%) axonal, 366 (32.2%) demyelinating, 195 (17.2%) equivocal, 35 (3.1%) inexcitable and 70 (6.2%) normal. Thus, 360 studies (31.7%) were classified differently. The areas of differences were as follows: 155 studies (13.6%) classified as demyelinating by Hadden and axonal by Rajabally; 122 studies (10.7%) classified as demyelinating by Hadden and equivocal by Rajabally; and 75 studies (6.6%) classified as equivocal by Hadden and axonal by Rajabally. Due to more strictly defined cutoffs fewer patients fulfilled demyelinating criteria by Rajabally than by Hadden, making more patients eligible for axonal or equivocal classification by Rajabally. In 234 (68.6%) axonal studies by Rajabally the revised El Escorial (amyotrophic lateral sclerosis) criteria were fulfilled; in axonal cases by Hadden this was 1.8%. Conclusions and discussion: This study shows that electrodiagnosis in GBS is dependent on the criterion set utilized, both of which are based on expert opinion. Reappraisal of electrodiagnostic subtyping in GBS is warranted.

Published
2024

30. Why are the inner and outer sides of many flower petals differently coloured?

Author

Fan, X.‐Q., Trunschke, J., Ren, Z.‐X., Wang, H., Pyke, G. H., van der Kooi, C. J., and Lunau, K.

Subjects
FLOWER petals, GENITALIA, COLOR, ULTRAVIOLET radiation, POLLINATORS
Abstract

The flower perianth has various, non‐mutually exclusive functions, such as visual signalling to pollinators and protecting the reproductive organs from the elements and from florivores, but how different perianth structures and their different sides play a role in these functions is unclear. Intriguingly, in many species there is a clear colour difference between the different sides of the perianth, with colour patterns or pigmentation present on only one side. Any adaptive benefit from such colour asymmetry is unclear, as is how the asymmetry evolved. In this viewpoint paper, we address the phenomenon of flowers with differently coloured inner and outer perianth sides, focusing on petals of erect flowers. Guided by existing literature and our own observations, we delineate three non‐mutually exclusive evolutionary hypotheses that may explain the factors underlying differently coloured perianth sides. The pollen‐protection hypothesis predicts that the outer side of petals contributes to protect pollen against UV radiation, especially during the bud stage. The herbivore‐avoidance hypothesis predicts that the outer side of petals reduces the flower's visibility to herbivores. The signalling‐to‐pollinators hypothesis predicts that flower colours evolve to increase conspicuousness to pollinators. The pollen‐protection hypothesis, the herbivore‐avoidance hypothesis, and the signalling‐to‐pollinators hypothesis generate largely but not entirely overlapping predictions about the colour of the inner and outer side of the petals. Field and laboratory research is necessary to disentangle the main drivers and adaptive significance of inner–outer petal side colour asymmetry. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James AL, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny PA, Gilhuis, H Jacobus, Hadden, Robert DM, Holt, James KL, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel PJ, Straathof, Chiara SM, Gorson, Kenneth C, and Jacobs, Bart C

Published
2021
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32. TCRβ clones in muscle tissue share structural features in patients with idiopathic inflammatory myopathy and are associated with disease activity

Author

Anang, Dornatien C., primary, Walter, Hannah A. W., additional, Lim, Johan, additional, Niewold, Ilse T. G., additional, van der Weele, Linda, additional, Aronica, Eleonora, additional, Eftimov, Filip, additional, Raaphorst, Joost, additional, van Schaik, Barbera D. C., additional, van Kampen, Antoine H. C., additional, van der Kooi, Anneke J., additional, and de Vries, Niek, additional

Published
2024
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39. Does COVID-19 impact the prevalence of myositis specific antibodies in the Netherlands? A comparative nationwide study

Author

Kamperman, Renske G, primary, van Leeuwen, Ester MM, additional, Willems, Myrthe, additional, van der Kooi, Anneke J, additional, Gelderman, Kyra A, additional, Hamann, Dörte, additional, van Lochem, Ellen G, additional, Meek, Bob, additional, van der Molen, Renate G, additional, Platteel, Anouk CM, additional, Otten, Henny G, additional, Schreurs, Marco WJ, additional, and Raaphorst, Joost, additional

Published
2023
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41. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

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

Published
2022
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48. POS0603 AUTOANTIBODIES AGAINST A SUBUNIT OF MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I IN INCLUSION BODY MYOSITIS

Author

Notarnicola, A., primary, Hellstrom, C., additional, Horuluoglu, B., additional, Preger, C., additional, Bonomi, F., additional, De Paepe, B., additional, De Bleecker, J., additional, Van der Kooi, A. J., additional, De Visser, M., additional, Sacconi, S., additional, Machado, P., additional, Badrising, U. A., additional, Rietveld, A., additional, Pruijn, G., additional, Rothwell, S., additional, Lilleker, J. B., additional, Chinoy, H., additional, Benveniste, O., additional, Svenungsson, E., additional, Idborg, H., additional, Jakobsson, P. J., additional, Nilsson, P., additional, and Lundberg, I. E., additional

Published
2023
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50. POS0005 IN PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOSITIS, MUSCLE-RESTRICTED TCR CLONES SHARE STRUCTURAL FEATURES, WHILE THEIR EXPANSION CORRELATES WITH DISEASE ACTIVITY

Author

Anang, D., primary, Walter, H., additional, Balzaretti, G., additional, Lim, J., additional, Olivieri, A., additional, Van der Weele, L., additional, Niewold, I., additional, Aronica, E., additional, Eftimov, F., additional, Raaphorst, J., additional, Van Schaik, B., additional, Van Kampen, A., additional, Van der Kooi, A. J., additional, and De Vries, N., additional

Published
2023
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