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- 2022
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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
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in 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
-
Mark
Amino Acid Synthesis Deficiencies
2022) p.453-467(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients
(
- Contribution to journal › Article
- 2021
-
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
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
(
- Contribution to journal › Article
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Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
(
- 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
(
- Contribution to journal › Scientific review
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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