Tom J de Koning
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- 2024
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
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- Contribution to journal › Article
- 2023
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Mark
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
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- Contribution to journal › Article
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Mark
Psychiatric manifestations of inborn errors of metabolism : A systematic review
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- Contribution to journal › Scientific review
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Mark
Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review
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- Contribution to journal › Scientific review
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Mark
Gut Microbiome Composition in Dystonia Patients
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- Contribution to journal › Article
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Mark
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
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- Contribution to journal › Article
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Mark
Early onset ataxia with comorbid myoclonus and epilepsy : A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
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- Contribution to journal › Article
- 2022
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Mark
Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients
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- Contribution to journal › Article
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Mark
Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
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- Contribution to journal › Article
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Mark
The Mitochondrial Epigenome : An Unexplored Avenue to Explain Unexplained Myopathies?
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- Contribution to journal › Article