'New ordinary' of 'winners' : South Africa as part of BRICS von Gewald, J.B., Kamsteeg, F., Wels, H.

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Routine outcome monitoring and benchmarking: how can treatment results be compared in a responsible manner? von Noom, M J, de Jong, K, Tiemens, B, Kamsteeg, F, Markus, M T, Pot, A M, Schippers, G M, Swildens, W, Sytema, S, Theunissen, J, van der Vlist, H P, Vuyk, J, Zondervan, J

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RYR1-related myopathies: a wide spectrum of phenotypes throughout life von Snoeck, M., van Engelen, B. G. M., Küsters, B., Lammens, M., Meijer, R., Molenaar, J. P. F., Raaphorst, J., Verschuuren-Bemelmans, C. C., Straathof, C. S. M., Sie, L. T. L., de Coo, I. F., van der Pol, W. L., de Visser, M., Scheffer, H., Treves, S., Jungbluth, H., Voermans, N. C., Kamsteeg, E.-J.

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Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome von Witting, N., Laforêt, P., Voermans, N. C., Roux‐Buisson, N., Bompaire, F., Rendu, J., Duno, M., Feillet, F., Kamsteeg, E.‐J., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, J., Behin, A.

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis von Dlamini, N, Voermans, N.C, Lillis, S, Stewart, K, Kamsteeg, E.-J, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunovic, A, Straub, V, Roberts, M, Vrancken, A.F.J.E, van der Pol, W.L, de Coo, R.I.F.M, Manzur, A.Y, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, P.M, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, M.R, van Engelen, B, Jungbluth, H

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability von Lelieveld, Stefan H, Reijnders, Margot R F, Pfundt, Rolph, Yntema, Helger G, Kamsteeg, Erik-Jan, de Vries, Petra, de Vries, Bert B A, Willemsen, Marjolein H, Kleefstra, Tjitske, Löhner, Katharina, Vreeburg, Maaike, Stevens, Servi J C, van der Burgt, Ineke, Bongers, Ernie M H F, Stegmann, Alexander P A, Rump, Patrick, Rinne, Tuula, Nelen, Marcel R, Veltman, Joris A, Vissers, Lisenka E L M, Brunner, Han G, Gilissen, Christian

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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia von Reid, Kimberley M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik‐Jan, Haack, Tobias B., Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Scott, Richard H., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K., Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E., Campeau, Philippe M., Harvey, Robert J., Kurian, Manju A.

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Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands von Reumers, Stacha F. I., Erasmus, Corrie E., Bouman, Karlijn, Pennings, Maartje, Schouten, Meyke, Kusters, Benno, Duijkers, Floor A. M., Kooi, Anneke, Jaeger, Bregje, Verschuuren‐Bemelmans, Corien C., Faber, Catharina G., Engelen, Baziel G., Kamsteeg, Erik‐Jan, Jungbluth, Heinz, Voermans, Nicol C.

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Dupilumab is very effective in a large cohort of difficult‐to‐treat adult atopic dermatitis patients: First clinical and biomarker results from the BioDay registry von Ariëns, Lieneke F. M., Schaft, Jorien, Bakker, Daphne S., Balak, Deepak, Romeijn, Margreet L. E., Kouwenhoven, Tessa, Kamsteeg, Marijke, Giovannone, Barbara, Drylewicz, Julia, Amerongen, Cynthia Catalina Aurora, Delemarre, Evelien M., Knol, Edward F., Wijk, Femke, Nierkens, Stefan, Thijs, Judith L., Schuttelaar, Marie L. A., Bruin‐Weller, Marjolein S.

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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 von KAMSTEEG, Erik-Jan, KRESS, Wolfram, CATALLI, Claudio, HERTZ, Jens M, WITSCH-BAUMGARTNER, Martina, BUCKLEY, Michael F, ENGELEN, Baziel Gm Van, SCHWARTZ, Marianne, SCHEFFER, Hans

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De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy von Lee, Jae-Ran, Srour, Myriam, Kim, Doyoun, Hamdan, Fadi. F., Lim, So-Hee, Brunel-Guitton, Catherine, Décarie, Jean-Claude, Rossignol, Elsa, Mitchell, Grant A., Schreiber, Allison, Moran, Rocio, Van Haren, Keith, Richardson, Randal, Nicolai, Joost, Oberndorff, Karin M.E.J., Wagner, Justin D., Boycott, Kym M., Rahikkala, Elisa, Junna, Nella, Tyynismaa, Henna, Cuppen, Inge, Verbeek, Nienke E., Stumpel, Connie T.R.M., Willemsen, Michel A., de Munnik, Sonja A., Rouleau, Guy A., Kim, Eunjoon, Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Michaud, Jacques L.

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De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability von Wijnen, Iris G M, Veenstra-Knol, Hermine E, Vansenne, Fleur, Gerkes, Erica H, de Koning, Tom, Vos, Yvonne J, Tijssen, Marina A J, Sival, Deborah, Darin, Niklas, Vanhoutte, Els K, Oosterloo, Mayke, Pennings, Maartje, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

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Genotype―phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort von VAN GASSEN, Koen L. I, VAN DER HEIJDEN, Charlotte D. C. C, VAN DE WARRENBURG, Bart P, DE BOT, Susanne T, DEN DUNNEN, Wilfred F. A, VAN DEN BERG, Leonard H, VERSCHUUREN-BEMELMANS, Corien C, KREMER, H. P. H, VELDINK, Jan H, KAMSTEEG, Erik-Jan, SCHEFFER, Hans

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Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice von Bugiardini, Enrico, Nunes, Andreia M, Oliveira-Santos, Ariany, Dagda, Marisela, Fontelonga, Tatiana M, Barraza-Flores, Pamela, Pittman, Alan M, Morrow, Jasper M, Parton, Matthew, Houlden, Henry, Elliott, Perry M, Syrris, Petros, Maas, Roderick P, Akhtar, Mohammed M, Küsters, Benno, Raaphorst, Joost, Schouten, Meyke, Kamsteeg, Erik-Jan, van Engelen, Baziel, Hanna, Michael G, Phadke, Rahul, Lopes, Luis R, Matthews, Emma, Burkin, Dean J

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RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia von van den Bersselaar, L.R., Greven, T., Bulger, T., Voermans, N.C., van Petegem, F., Schiemann, A.H., Parker, R., Burling, S.M., Jungbluth, H., Stowell, K.M., Kamsteeg, E.J., Snoeck, M.M.J.

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Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia von de Baaij, Jeroen H F, Dorresteijn, Eiske M, Hennekam, Eric A M, Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A, Bindels, René J M, Hoenderop, Joost G J, Devuyst, Olivier, Knoers, Nine V A M

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Targeting the Cutaneous Microbiota in Atopic Dermatitis by Coal Tar via AHR-Dependent Induction of Antimicrobial Peptides von Smits, Jos P.H., Ederveen, Thomas H.A., Rikken, Gijs, van den Brink, Noa J.M., van Vlijmen-Willems, Ivonne M.J.J., Boekhorst, Jos, Kamsteeg, Marijke, Schalkwijk, Joost, van Hijum, Sacha A.F.T., Zeeuwen, Patrick L.J.M., van den Bogaard, Ellen H.

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The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers von Kruijt, N., Bersselaar, L. R., Kamsteeg, E. J., Verbeeck, W., Snoeck, M. M. J., Everaerd, D. S., Abdo, W. F., Jansen, D. R. M., Erasmus, C. E., Jungbluth, H., Voermans, N. C.

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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions von Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.

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Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort von Franken, Daniëlle K., Bouman, Karlijn, Reumers, Stacha F. I., Braun, Frederik, Spillane, Jennifer, Pennings, Maartje, Houwen, Saskia L.S., Erasmus, Corrie E., Schara-Schmidt, Ulrike, Kamsteeg, Erik-Jan, Jungbluth, Heinz, Voermans, Nicol C.

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