Garry K. Brown

Oxford, ENG OX37LE, United Kingdom

Last Updated: 09/26/2026

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Found 26 publications

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Phenotypic continuum of NFU1-related disorders.

Phenotypic continuum of NFU1-related disorders.

Journal: Annals of clinical and translational neurology

Published: August 01, 2022

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

Journal: Molecular genetics and metabolism reports

Published: August 18, 2020

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Journal: Human genetics

Published: August 06, 2019

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 05, 2019

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Journal: EMBO molecular medicine

Published: September 12, 2018

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Journal: Journal of medical genetics

Published: March 18, 2016

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Journal: Journal of neuropathology and experimental neurology

Published: June 18, 2015

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Journal: Brain : a journal of neurology

Published: May 26, 2015

Next generation mitochondrial disease: change in diagnostics with eyes on therapy.

Next generation mitochondrial disease: change in diagnostics with eyes on therapy.

Journal: Journal of inherited metabolic disease

Published: May 01, 2015

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

Journal: European journal of human genetics : EJHG

Published: May 12, 2014

Showing 1-12 of 26

Last Updated: 09/26/2026