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 Developmental neurobiology of cerebellar and Basal Ganglia connections
Sival, Deborah A ; Noort, Suus A M van ; Tijssen, Marina A J ; de Koning, Tom J ^LU and Verbeek, Dineke S (2022) In European Journal of Paediatric Neurology 36. p.123-129
- 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
2021
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
Mark Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
Gannamani, Rahul ; van der Veen, Sterre ; van Egmond, Martje ; de Koning, Tom J ^LU and Tijssen, Marina A J (2021) In Movement Disorders Clinical Practice 8(3). p.311-321
- Contribution to journal › Scientific review
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 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 Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care : Cohort Study of Returning UK Biobank Participants
Castela Forte, José ; Folkertsma, Pytrik ; Gannamani, Rahul ; Kumaraswamy, Sridhar ; Mount, Sarah ; de Koning, Tom J ^LU ; van Dam, Sipko and Wolffenbuttel, Bruce H R (2021) In Journal of Personalized Medicine 11(12).
- Contribution to journal › Article
Mark The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
Mainka, Tina ; Fischer, Jan Frederik ; Huebl, Julius ; Jung, Alexandra ; Lier, Dinah ; Mosejova, Alexandra ; Skorvanek, Matej ; de Koning, Tom J. ^LU ; Kühn, Andrea A. and Freisinger, Peter , et al. (2021) In Parkinsonism and Related Disorders 89. p.167-175
- Contribution to journal › Article

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