Simon S. Pope

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?

Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: December 21, 2025

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.

Journal: Movement disorders clinical practice

Published: March 06, 2024

Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brain.

Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brain.

Journal: Nature communications

Published: February 26, 2024

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Journal: Brain : a journal of neurology

Published: August 22, 2023

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Journal: Brain : a journal of neurology

Published: May 18, 2023

Advances in methods to analyse cardiolipin and their clinical applications.

Advances in methods to analyse cardiolipin and their clinical applications.

Journal: Trends in analytical chemistry : TRAC

Published: February 08, 2023

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

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

Journal: Brain : a journal of neurology

Published: August 27, 2020

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Journal: Orphanet journal of rare diseases

Published: August 08, 2020

Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction?

Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction?

Journal: Journal of the neurological sciences

Published: March 25, 2020

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Journal: Orphanet journal of rare diseases

Published: November 26, 2019

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 22, 2019

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Journal: Journal of clinical medicine

Published: May 30, 2019

Showing 1-12 of 32

Last Updated: 09/26/2026