Tom J de Koning
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- 2024
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Mark
Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model
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- Contribution to journal › Article
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Mark
The natural history of progressive myoclonus Ataxia
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- Contribution to journal › Article
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Mark
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old : a phenomenographic qualitative study
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- Contribution to journal › Article
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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
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Mark
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy : A Systematic Review
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- Contribution to journal › Scientific review
- 2023
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Mark
Gut Microbiome Composition in Dystonia Patients
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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
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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
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
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
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- Contribution to journal › Article
- 2022
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Mark
Amino Acid Synthesis Deficiencies
2022) p.453-467(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
The Mitochondrial Epigenome : An Unexplored Avenue to Explain Unexplained Myopathies?
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- Contribution to journal › Article
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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
Developmental neurobiology of cerebellar and Basal Ganglia connections
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- Contribution to journal › Article
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Mark
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients
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- Contribution to journal › Article
- 2021
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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
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
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
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- Contribution to journal › Article