Tom J de Koning
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- 2021
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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
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
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- Contribution to journal › Article
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Mark
The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
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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
- 2020
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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
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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
Inborn Errors of Metabolism in Adults : Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
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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
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
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- Contribution to journal › Article
- 2019
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Mark
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia
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- Contribution to journal › Article