Sila Hopton

Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 25 publications

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Journal: Neuromuscular disorders : NMD

Published: June 27, 2025

Isolated Periodic-Paralysis-Like Syndrome in a Kinship With a Pathogenic MT-ATP6 Variant: A Case Report.

Isolated Periodic-Paralysis-Like Syndrome in a Kinship With a Pathogenic MT-ATP6 Variant: A Case Report.

Journal: Muscle & nerve

Published: April 01, 2025

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.

Journal: Journal of rare diseases (Berlin, Germany)

Published: March 31, 2025

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.

Journal: Neuromuscular disorders : NMD

Published: December 20, 2024

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

Journal: Life science alliance

Published: August 23, 2024

Leigh syndrome: an adult presentation of a paediatric disease.

Leigh syndrome: an adult presentation of a paediatric disease.

Journal: Practical neurology

Published: July 23, 2023

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy.

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy.

Journal: BMJ neurology open

Published: November 22, 2022

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Journal: EMBO molecular medicine

Published: August 19, 2022

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

Journal: Human molecular genetics

Published: August 26, 2021

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.

Journal: Neuromuscular disorders : NMD

Published: February 17, 2021

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Journal: Neuromuscular disorders : NMD

Published: January 09, 2020

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant.

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant.

Journal: Neuromuscular disorders : NMD

Published: November 20, 2019

Showing 1-12 of 25

Last Updated: 09/26/2026