about
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsMissense dopamine transporter mutations associate with adult parkinsonism and ADHD.The large-conductance Ca2+-activated K+ channel is essential for innate immunity.Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.Astrocytes protect against copper-catalysed loss of extracellular glutathione.Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type mice.New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (vitamin E).Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?Low CSF 5-HIAA in Myoclonus Dystonia.Glutamate induces release of glutathione from cultured rat astrocytes--a possible neuroprotective mechanism?Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.Metabolic adaptation to chronic hypoxia in cardiac mitochondria.A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathyA new method for the analysis of urinary vitamin E metabolites and the tentative identification of a novel group of compoundsSpectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG diseaseCerebral folate deficiency: Analytical tests and differential diagnosis
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description
researcher, ORCID id # 0000-0002-2991-3722
@en
wetenschapper
@nl
name
Simon Pope
@ast
Simon Pope
@en
Simon Pope
@es
Simon Pope
@nl
type
label
Simon Pope
@ast
Simon Pope
@en
Simon Pope
@es
Simon Pope
@nl
prefLabel
Simon Pope
@ast
Simon Pope
@en
Simon Pope
@es
Simon Pope
@nl
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P496
0000-0002-2991-3722