Skip to ContentSkip to Navigation
How to find us dr. T.J. de Koning

Publications

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

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

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

Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults

A clinical diagnostic algorithm for early onset cerebellar ataxia

A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy

Read more

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)

Read more