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Publications

Developmental neurobiology of cerebellar and Basal Ganglia connections

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases

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

Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients

How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

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Press/media

MD PhD project on GOSR2 disease

Pathogenesis of North Sea myoclonus

Centre of expertise and the organisation of patient day for rare movement disorders

How to reduce the burden of administration and bureaucracy

Research on GOSR2

National Rare Diseases day and our work on GOSR2

Zeldzame bewegingsstoornissen

Interview regarding installation Dutch pediatrics association

Interview North Sea Progressive myoclonus

Fundraising bicycle tour (Stofwisseltour)

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