Tom J de Koning

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2022
Mark Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients
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 and Verrips, Aad , et al. (2022) In Journal of Inherited Metabolic Disease 45(5). p.981-995
- Contribution to journal › Article
Mark Serotonergic system in vivo with [¹¹C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
Timmers, Elze R. ; Peretti, Débora E. ; Smit, Marenka ; de Jong, Bauke M. ; Dierckx, Rudi A.J.O. ; Kuiper, Anouk ; de Koning, Tom J. ^LU ; Vállez García, David and Tijssen, Marina A.J. (2022) In Scientific Reports 12(1).
- Contribution to journal › Article
Mark The Mitochondrial Epigenome : An Unexplored Avenue to Explain Unexplained Myopathies?
Mposhi, Archibold ; Liang, Lin ; Mennega, Kevin P. ; Yildiz, Dilemin ; Kampert, Crista ; Hof, Ingrid H. ; Jellema, Pytrick G. ; de Koning, Tom J. ^LU ; Faber, Klaas Nico and Ruiters, Marcel H.J. , et al. (2022) In International Journal of Molecular Sciences 23(4).
- Contribution to journal › Article
Mark Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients
Timmers, Elze R ; Plösch, Torsten ; Smit, Marenka ; Hof, Ingrid H ; Verkaik-Schakel, Rikst Nynke ; Tijssen, Marina A J ; de Koning, Tom J ^LU and Niezen-Koning, Klary E (2022) In Clinical Epigenetics 14. p.1-10
- Contribution to journal › Article
2021
Mark Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases
Huang, Miaozhen ; de Koning, Tom J. ^LU ; Tijssen, Marina A.J. and Verbeek, Dineke S. (2021) In Biochimica et Biophysica Acta - Molecular Basis of Disease 1867(1).
- Contribution to journal › Article
Mark Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy"
van Verseveld, M ; Koens, L H ; de Koning, Tom J ^LU ; Derikx, R L E and van Waarde, J A (2021) In Frontiers in Psychiatry 12. p.1-4
- Contribution to journal › Article
Mark Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
Timmers, Elze R. ; van Faassen, Martijn ; Smit, Marenka ; Kuiper, Anouk ; Hof, Ingrid H. ; Kema, Ido P. ; Tijssen, Marina A.J. ; Niezen-Koning, Klary E. and de Koning, Tom J. ^LU (2021) In Parkinsonism and Related Disorders 91. p.48-54
- Contribution to journal › Article
Mark Treatment of ARS deficiencies with specific amino acids
Kok, Gautam ; Tseng, Laura ; Schene, Imre F. ; Dijsselhof, Monique E. ; Salomons, Gajja ; Mendes, Marisa I. ; Smith, Desiree E.C. ; Wiedemann, Arnaud ; Canton, Marie and Feillet, François , et al. (2021) In Genetics in Medicine 23(11). p.2202-2207
- Contribution to journal › Article
Mark Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Bonora, Elena ; Chakrabarty, Sanjiban ; Kellaris, Georgios ; Tsutsumi, Makiko ; Bianco, Francesca ; Bergamini, Christian ; Ullah, Farid ; Isidori, Federica ; Liparulo, Irene and Diquigiovanni, Chiara , et al. (2021) In Brain : a journal of neurology 144(5). p.1451-1466
- Contribution to journal › Article
Mark How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
Koens, Lisette H ; de Vries, Jeroen J ; Vansenne, Fleur ; de Koning, Tom J ^LU and Tijssen, Marina A J (2021) In Parkinsonism & Related Disorders 85. p.124-132
- Contribution to journal › Scientific review

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