Tom J de Koning

Professor
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  1. 2017
  2. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

    Christian J. Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean Christophe Corvol, Tom J. de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik & 7 others, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten & Stefan A. Kolb, 2017 May 4, In: Current Medical Research and Opinion. 33, 5, p. 877-890 14 p.

    Research output: Contribution to journalArticle

  3. A post hoc study on gene panel analysis for the diagnosis of dystonia

    Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer, Maria Fiorella Contarino, Victor S.C. Fung, M. Rebecca Heiner-Fokkema, Jacobus J. van Hilten, Annemarie H. van der Hout, Kathryn J. Peall, Richard J. Sinke, Emmanuel Roze, Corien C. Verschuuren-Bemelmans, Michel A. Willemsen, Nicole I. Wolf, Marina A. Tijssen & Tom J. de Koning, 2017 Apr 1, In: Movement Disorders. 32, 4, p. 569-575 7 p.

    Research output: Contribution to journalArticle

  4. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

    Esther A.R. Nibbeling, Cathérine C.S. Delnooz, Tom J. de Koning, Richard J. Sinke, Hyder A. Jinnah, Marina A.J. Tijssen & Dineke S. Verbeek, 2017 Apr 1, In: Neuroscience and Biobehavioral Reviews. 75, p. 22-39

    Research output: Contribution to journalReview article

  5. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: An observational prospective open-label study

    Martje E. Van Egmond, Amerins Weijenberg, Margreet E. Van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A.J. Tijssen, Oebele F. Brouwer & Tom J. De Koning, 2017 Mar 7, In: Orphanet Journal of Rare Diseases. 12, 1, 45.

    Research output: Contribution to journalArticle

  6. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

    Roelineke J. Lunsing, Kim Strating, Tom J. de Koning & Paul E. Sijens, 2017 Mar 1, In: European Radiology. 27, 3, p. 976-984 9 p.

    Research output: Contribution to journalArticle

  7. GAVIN: Gene-Aware Variant INterpretation for medical sequencing

    K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen, Birgit Sikkema-Raddatz, Kristin M. Abbott, Alain Knopperts, Lude Franke, Rolf H. Sijmons, Tom J. de Koning, Cisca Wijmenga, Richard J. Sinke & Morris A. Swertz, 2017 Jan 16, In: Genome Biology. 18, 1, 6.

    Research output: Contribution to journalArticle

  8. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

    Hendriekje Eggink, Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Marleen C. Schönherr, Tom J. de Koning, D. L.Marinus Oterdoom, J. Marc C. van Dijk & Marina A.J. Tijssen, 2017 Jan 1, In: Movement Disorders. 32, 1, p. 162-165 4 p.

    Research output: Contribution to journalDebate/Note/Editorial

  9. 2016
  10. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: A perinatal protocol for use before population neonatal screening test results become available

    Willemijn J. Van Rijt, Emmalie A. Jager, Francjan J. Van Spronsen, Tom De Koning, M. Rebecca Heiner-Fokkema & Terry G.J. Derks, 2016 Dec 1, In: Genetics in Medicine. 18, 12, p. 1322-1323 2 p.

    Research output: Contribution to journalLetter

  11. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

    L. H. Koens, A. Kuiper, M. A. Coenen, J. W.J. Elting, J. J. De Vries, M. Engelen, J. H.T.M. Koelman, F. J. Van Spronsen, J. M. Spikman, T. J. De Koning & M. A.J. Tijssen, 2016 Sep 1, In: Orphanet Journal of Rare Diseases. 11, 1, 121.

    Research output: Contribution to journalArticle

  12. Neurometabolic disorders are treatable causes of dystonia

    A. Kuiper, H. Eggink, M. A.J. Tijssen & T. J. de Koning, 2016 Aug 1, In: Revue Neurologique. 172, 8-9, p. 455-464 10 p.

    Research output: Contribution to journalArticle

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