Tom J de Koning

Professor

Research areas and keywords

UKÄ subject classification

  • Pediatrics

Keywords

  • Metabolic diseases, Movement disorders, Neurogenetics, Next Generation Sequencing

Recent research outputs

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, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1867, 1, 165976.

Research output: Contribution to journal › Article

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, In : Diagnostics. 10, 12

Research output: Contribution to journal › Article

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, In : Movement Disorders Clinical Practice. 7, 8, p. 1004-1006 3 p.

Research output: Contribution to journal › Letter

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Tom J de Koning

Professor

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