Tom J de Koning
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- 2021
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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
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- Contribution to journal › Article
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Mark
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
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- Contribution to journal › Article
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Mark
Treatment of ARS deficiencies with specific amino acids
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- Contribution to journal › Article
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Mark
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
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- Contribution to journal › Scientific review
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Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
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- Contribution to journal › Scientific review
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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
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- Contribution to journal › Article
- 2020
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
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- Contribution to journal › Article
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Mark
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
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- Contribution to journal › Article
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Mark
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults
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- Contribution to journal › Letter
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Mark
Early Onset Ataxia with Comorbid Dystonia : Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology
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- Contribution to journal › Article