Tom J de Koning
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- 2024
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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
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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
The natural history of progressive myoclonus Ataxia
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- Contribution to journal › Article
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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
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
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
- 2022
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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
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
The Mitochondrial Epigenome : An Unexplored Avenue to Explain Unexplained Myopathies?
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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
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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
Developmental neurobiology of cerebellar and Basal Ganglia connections
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- Contribution to journal › Article
- 2021
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Mark
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
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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
Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy"
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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
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Mark
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
(
- 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
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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
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
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- Contribution to journal › Article
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Mark
Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases
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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
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Mark
Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
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- Contribution to journal › Scientific review
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Mark
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
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- Contribution to journal › Article
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Mark
Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity
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- Contribution to journal › Article
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Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
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- Contribution to journal › Scientific review
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Mark
A clinical diagnostic algorithm for early onset cerebellar ataxia
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- Contribution to journal › Article
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Mark
Identification of human D lactate dehydrogenase deficiency
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- Contribution to journal › Article
- 2018
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Mark
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism
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- Contribution to journal › Scientific review
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Mark
Progressive myoclonus ataxia : Time for a new definition?
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- Contribution to journal › Article
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Mark
Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia
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- Contribution to journal › Article
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Mark
Expanding the ADCY5 phenotype toward spastic paraparesis : Amutation in the M2 domain
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- Contribution to journal › Article
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Mark
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers : from bedside to home site monitoring
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- Contribution to journal › Article
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Mark
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
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- Contribution to journal › Letter
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Mark
Treatable inherited rare movement disorders
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- Contribution to journal › Scientific review
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Mark
Ketogenic Diet in Refractory Childhood Epilepsy : Starting With a Liquid Formulation in an Outpatient Setting
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- Contribution to journal › Article
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Mark
Crossing barriers : a multidisciplinary approach to children and adults with young-onset movement disorders
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- Contribution to journal › Article
- 2017
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Mark
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
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- Contribution to journal › Article
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Mark
Non-motor symptoms and quality of life in dopa-responsive dystonia patients
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- Contribution to journal › Article
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Mark
Rapid targeted genomics in critically ill newborns
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- Contribution to journal › Article