Tom J de Koning

Professor
Fler filtreringsmöjligheter
  1. 2021
  2. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

    Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pierluigi Martelli, Ivana Matera & 47 andra, Isabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K Mishra, Yu-Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Tatsushi Toda, Yu-Ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson MacInnes, Mariel Alders, Marc Engelen, Gabor Linthorst, Tom de Koning, Wilfred den Dunnen, Gerard Dijkstra, Karin van Spaendonck, Dik C van Gent, Eleonora M Aronica, Paolo Picco, Valerio Carelli, Marco Seri, Nicholas Katsanis, Floor A M Duijkers, Mariko Taniguchi-Ikeda & Roberto De Giorgio, 2021 apr 15, I: Brain : a journal of neurology.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach

    Lisette H Koens, Jeroen J de Vries, Fleur Vansenne, Tom J de Koning & Marina A J Tijssen, 2021 mar 2, I: Parkinsonism & Related Disorders.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  4. Diagnostic approach to paediatric movement disorders: a clinical practice guide

    Rick Brandsma, Martje E. van Egmond, Marina A.J. Tijssen, T. J. de Koning & the Groningen Movement Disorder Expertise Centre the Groningen Movement Disorder Expertise Centre, 2021 mar, I: Developmental Medicine and Child Neurology. 63, 3, s. 252-258 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases

    Miaozhen Huang, Tom J. de Koning, Marina A.J. Tijssen & Dineke S. Verbeek, 2021 jan 1, I: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1867, 1, 165976.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

    Rahul Gannamani, Sterre van der Veen, Martje van Egmond, Tom J de Koning & Marina A J Tijssen, 2021, I: Movement Disorders Clinical Practice. 8, 3, s. 311-321 11 s.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  7. 2020
  8. Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

    Deborah A Sival, Martinica Garofalo, Rick Brandsma, Tom A Bokkers, Marloes van den Berg, Tom J de Koning, Marina A J Tijssen & Dineke S Verbeek, 2020 nov 24, I: Diagnostics. 10, 12

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults

    Tina Mainka, Athanasia Ziagaki, Tom J. de Koning, Andrea A. Kühn & Christos Ganos, 2020 nov, I: Movement Disorders Clinical Practice. 7, 8, s. 1004-1006 3 s.

    Forskningsoutput: TidskriftsbidragLetter

  10. Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

    Olga Ulmanová, Lisette H. Koens, Helena Jahnová, Jeroen J. de Vries, Tom J. de Koning, Evžen Růžička & Marina A.J. Tijssen, 2020 sep 1, I: Movement Disorders Clinical Practice. 7, S3, s. S85-S88

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

    Iris G.M. Wijnen, Hermine E. Veenstra-Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A.J. Tijssen, Deborah Sival, Niklas Darin, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P. van de Warrenburg & Erik Jan Kamsteeg, 2020 mar 10, I: European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

    Sjoukje S. Polet, David G. Anderson, Lisette H. Koens, Martje E. van Egmond, Gea Drost, Esther Brusse, Michèl AAP Willemsen, Deborah A. Sival, Oebele F. Brouwer, Hubertus PH Kremer, Jeroen J. de Vries, Marina AJ Tijssen & Tom J. de Koning, 2020, I: Parkinsonism and Related Disorders. 72, s. 44-48 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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