The natural history of progressive myoclonus ataxia von van der Veen, Sterre, Eggink, Hendriekje, Elting, Jan Willem J., Sival, Deborah, Verschuuren-Bemelmans, Corien C., de Koning, Tom J., Tijssen, Marina A.J.

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Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations von Laghmani, Kamel, Beck, Bodo B, Yang, Sung-Sen, Seaayfan, Elie, Wenzel, Andrea, Reusch, Björn, Vitzthum, Helga, Priem, Dario, Demaretz, Sylvie, Bergmann, Klasien, Duin, Leonie K, Göbel, Heike, Mache, Christoph, Thiele, Holger, Bartram, Malte P, Dombret, Carlos, Altmüller, Janine, Nürnberg, Peter, Benzing, Thomas, Levtchenko, Elena, Seyberth, Hannsjörg W, Klaus, Günter, Yigit, Gökhan, Lin, Shih-Hua, Timmer, Albert, de Koning, Tom J, Scherjon, Sicco A, Schlingmann, Karl P, Bertrand, Mathieu J.M, Rinschen, Markus M, de Backer, Olivier, Konrad, Martin, Kömhoff, Martin

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Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force von Veen, Sterre, Zutt, Rodi, Klein, Christine, Marras, Connie, Berkovic, Samuel F., Caviness, John N., Shibasaki, Hiroshi, Koning, Tom J., Tijssen, Marina A.J.

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Rapid Targeted Genomics in Critically Ill Newborns von van Diemen, Cleo C, Kerstjens-Frederikse, Wilhelmina S, Bergman, Klasien A, de Koning, Tom J, Sikkema-Raddatz, Birgit, van der Velde, Joeri K, Abbott, Kristin M, Herkert, Johanna C, Löhner, Katharina, Rump, Patrick, Meems-Veldhuis, Martine T, Neerincx, Pieter B T, Jongbloed, Jan D H, van Ravenswaaij-Arts, Conny M, Swertz, Morris A, Sinke, Richard J, van Langen, Irene M, Wijmenga, Cisca

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Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients von Timmers, Elze R., Peretti, Débora E., Smit, Marenka, de Jong, Bauke M., Dierckx, Rudi A. J. O., Kuiper, Anouk, de Koning, Tom J., Vállez García, David, Tijssen, Marina A. J.

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Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization von van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John-Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke, Richard, Spurdle, Amanda B., Macrae, Finlay, Genuardi, Maurizio, Sijmons, Rolf H., Swertz, Morris A.

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A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism von Koens, Lisette H., Klamer, Marrit R., Sival, Deborah A., Balint, Bettina, Bhatia, Kailash P., Contarino, Maria Fiorella, Egmond, Martje E., Erro, Roberto, Friedman, Jennifer, Fung, Victor S.C., Ganos, Christos, Kurian, Manju A., Lang, Anthony E., McGovern, Eavan M., Roze, Emmanuel, Koning, Tom J., Tijssen, Marina A.J.

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Treatment of ARS deficiencies with specific amino acids von Kok, Gautam, Tseng, Laura, Schene, Imre F., Dijsselhof, Monique E., Salomons, Gajja, Mendes, Marisa I., Smith, Desiree E. C., Wiedemann, Arnaud, Canton, Marie, Feillet, François, de Koning, Tom J., Boothe, Megan, Dean, Joy, Kassel, Rachel, Ferreira, Elise A., van den Born, Margreet, Nieuwenhuis, Edward E. S., Rehmann, Holger, Terheggen-Lagro, Suzanne W. J., van Karnebeek, Clara D. M., Fuchs, Sabine A.

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Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation von van Egmond, Martje E., Verschuuren-Bemelmans, Corien C., Nibbeling, Esther A., Elting, Jan Willem J., Sival, Deborah A., Brouwer, Oebele F., de Vries, Jeroen J., Kremer, Hubertus P., Sinke, Richard J., Tijssen, Marina A., de Koning, Tom J.

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Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism von Koens, Lisette H., Tijssen, Marina A.J., Lange, Fiete, Wolffenbuttel, Bruce H.R., Rufa, Alessandra, Zee, David S., Koning, Tom J.

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The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies? von Mposhi, Archibold, Liang, Lin, Mennega, Kevin P, Yildiz, Dilemin, Kampert, Crista, Hof, Ingrid H, Jellema, Pytrick G, de Koning, Tom J, Faber, Klaas Nico, Ruiters, Marcel H J, Niezen-Koning, Klary E, Rots, Marianne G

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A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids von Visser, Wouter F., Verhoeven-Duif, Nanda M., Ophoff, Roel, Bakker, Steven, Klomp, Leo W., Berger, Ruud, de Koning, Tom J.

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Gut Microbiome Composition in Dystonia Patients von Timmers, Elze R, Swarte, J Casper, Gacesa, Ranko, Björk, Johannes R, Weersma, Rinse K, Tijssen, Marina A J, de Koning, Tom J, Harmsen, Hermie J M, Niezen-Koning, Klary E

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Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients von Koens, Lisette H., Tuitert, Inge, Blokzijl, Hans, Engelen, Marc, Klouwer, Femke C. C., Lange, Fiete, Leen, Wilhelmina G., Lunsing, Roelineke J., Koelman, Johannes H. T. M., Verrips, Aad, Koning, Tom J., Tijssen, Marina A. J.

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GAVIN: Gene-Aware Variant INterpretation for medical sequencing von van der Velde, K Joeri, de Boer, Eddy N, van Diemen, Cleo C, Sikkema-Raddatz, Birgit, Abbott, Kristin M, Knopperts, Alain, Franke, Lude, Sijmons, Rolf H, de Koning, Tom J, Wijmenga, Cisca, Sinke, Richard J, Swertz, Morris A

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Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study von Orfanos, Ioannis, Lindkvist, Rose-Marie, Eklund, Erik G A, Elfving, Kristina, Alfvén, Tobias, de Koning, Tom J, Castor, Charlotte

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Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity von Egmond, Martje E., Contarino, Maria Fiorella, Lugtenberg, Coen H.A., Peall, Kathryn J., Brouwer, Oebele F., Fung, Victor S.C., Roze, Emmanuel, Stewart, Roy E., Willemsen, Michel A., Wolf, Nicole I., Koning, Tom J., Tijssen, Marina A.

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A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring von Hoogeveen, Irene J., Peeks, Fabian, de Boer, Foekje, Lubout, Charlotte M. A., de Koning, Tom J., te Boekhorst, Sebastiaan, Zandvoort, Robert-Jan, Burghard, Rob, van Spronsen, Francjan J., Derks, Terry G. J.

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Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes von Gannamani, Rahul, Veen, Sterre, Egmond, Martje, Koning, Tom J., Tijssen, Marina A.J.

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Reliability of phenotypic early‐onset ataxia assessment: a pilot study von Lawerman, Tjitske F, Brandsma, Rick, Geffen, Joke T, Lunsing, Roelineke J, Burger, Huibert, Tijssen, Marina A J, Vries, Jeroen J, Koning, Tom J, Sival, Deborah A

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