List of works - Simon Pope

A new method for the analysis of urinary vitamin E metabolites and the tentative identification of a novel group of compounds

scientific article published on 01 September 2000

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

scientific article published on 16 December 2009

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

scientific article

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies

scientific article published on 01 September 2021

Astrocytes protect against copper-catalysed loss of extracellular glutathione.

scientific article

Cerebral folate deficiency: Analytical tests and differential diagnosis

scientific article published on 02 May 2019

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.

scientific article published on 24 July 2015

Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type mice.

scientific article published on 23 October 2009

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

scientific article published in May 2017

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.

scientific article published on 17 October 2017

Glutamate induces release of glutathione from cultured rat astrocytes--a possible neuroprotective mechanism?

scientific article published on 7 January 2008

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

scientific article

Low CSF 5-HIAA in Myoclonus Dystonia

scientific article published on 26 September 2017

Metabolic adaptation to chronic hypoxia in cardiac mitochondria.

scientific article

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

scientific article

Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?

scientific article published on 26 January 2009

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

scientific article published on December 2016

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (vitamin E).

scientific article published in May 2001

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

scientific article

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

scientific article published on 17 November 2015

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

scientific article published on 30 August 2018

Synthesis and analysis of conjugates of the major vitamin E metabolite, alpha-CEHC.

scientific article published on September 2002

The large-conductance Ca2+-activated K+ channel is essential for innate immunity

scientific article

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.

scientific article published on 16 March 2016

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions

scientific article (publication date: 2011)

List of works by Simon Pope

A new method for the analysis of urinary vitamin E metabolites and the tentative identification of a novel group of compounds

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies

Astrocytes protect against copper-catalysed loss of extracellular glutathione.

Cerebral folate deficiency: Analytical tests and differential diagnosis

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.

Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type mice.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.

Glutamate induces release of glutathione from cultured rat astrocytes--a possible neuroprotective mechanism?

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

Low CSF 5-HIAA in Myoclonus Dystonia

Metabolic adaptation to chronic hypoxia in cardiac mitochondria.

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (vitamin E).

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Synthesis and analysis of conjugates of the major vitamin E metabolite, alpha-CEHC.

The large-conductance Ca2+-activated K+ channel is essential for innate immunity

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions