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- 2024
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Mark
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy : A Systematic Review
(
- 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
(
- Contribution to journal › Article
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
- 2023
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Mark
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
(
- Contribution to journal › Article
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Mark
Psychiatric manifestations of inborn errors of metabolism : A systematic review
(
- Contribution to journal › Scientific review
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Mark
Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review
(
- Contribution to journal › Scientific review
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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
(
- Contribution to journal › Article
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Mark
Gut Microbiome Composition in Dystonia Patients
(
- Contribution to journal › Article
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Mark
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
(
- Contribution to journal › Article
- 2022
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Mark
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients
(
- Contribution to journal › Article
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Mark
Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients
(
- 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
(
- Contribution to journal › Article
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Mark
The Mitochondrial Epigenome : An Unexplored Avenue to Explain Unexplained Myopathies?
(
- 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
- 2021
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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
(
- Contribution to journal › Article
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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
(
- Contribution to journal › Article
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Mark
The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
(
- Contribution to journal › Article
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Mark
Treatment of ARS deficiencies with specific amino acids
(
- Contribution to journal › Article
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Mark
Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy"
(
- Contribution to journal › Article
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Mark
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
(
- Contribution to journal › Article
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Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
(
- Contribution to journal › Scientific review
-
Mark
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
(
- Contribution to journal › Scientific review
- 2020
-
Mark
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults
(
- 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
(
- Contribution to journal › Article
-
Mark
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
(
- Contribution to journal › Article
- 2008
-
Mark
A Survey of Natural Protein Intake in Dutch Phenylketonuria Patients : Insight into Estimation or Measurement of Dietary Intake
(
- Contribution to journal › Article