Gavin Falkous

Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

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

Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.

Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.

Journal: Trials

Published: October 05, 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

Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.

Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.

Journal: Trials

Published: April 25, 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

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.

Journal: Frontiers in genetics

Published: October 24, 2019

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.

Journal: Clinical genetics

Published: August 16, 2019

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Journal: Neuromuscular disorders : NMD

Published: June 24, 2019

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Journal: Journal of clinical medicine

Published: May 10, 2019

Showing 1-12 of 32

Last Updated: 09/26/2026