Publications by authors named "Garry Brown"

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Garry K Brown

Brain· November 2025

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Phenotypic continuum of NFU1-related disorders.
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Ruth Brown, Garry Brown

Ann Clin Transl Neurol· December 2022

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related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Garry K Brown

Mol Genet Metab Rep· December 2020

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Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.
Melis Demir Köse, Ruya Colak, Ezgi Yangin Ergon, Ferit Kulali, Meral Yildiz, Ruth Brown, Garry Brown

J Pediatr Endocrinol Metab· April 2020

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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Alejandro Horga, Catherine E Woodward, Alberto Mills, Isabel Pareés, Iain P Hargreaves, Ruth M Brown, Garry K Brown

Hum Genet· December 2019

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mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, Garry K Brown

EMBO Mol Med· November 2018

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Mercury concentrations in fish from three major lakes in north Mississippi: Spatial and temporal differences and human health risk assessment.
Stacy Wolff, Garry Brown, Jingjing Chen, Keith Meals, Cammi Thornton

J Toxicol Environ Health A· May 2017

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The clinical, biochemical and genetic features associated with -related mitochondrial disease.
Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Ruth M Brown, Garry K Brown

J Med Genet· November 2016

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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Monika Oláhová, Steven A Hardy, Julie Hall, John W Yarham, Tobias B Haack, Ruth M Brown, Garry K Brown

Brain· December 2015

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A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
Monika Oláhová, Tobias B Haack, Charlotte L Alston, Jessica Ac Houghton, Langping He, Garry K Brown

Eur J Hum Genet· July 2015

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Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Nichola Z Lax, Charlotte L Alston, Katherine Schon, Soo-Mi Park, Deepa Krishnakumar, Garry K Brown

J Neuropathol Exp Neurol· July 2015

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Next generation mitochondrial disease: change in diagnostics with eyes on therapy.
Eva Morava, Garry K Brown

J Inherit Metab Dis· May 2015

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Simultaneous determination of mercury and organic carbon in sediment and soils using a direct mercury analyzer based on thermal decomposition-atomic absorption spectrophotometry.
Jingjing Chen, Pragya Chakravarty, Gregg R Davidson, Daniel G Wren, Martin A Locke, Garry Brown

Anal Chim Acta· April 2015

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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
Sanne van Dongen, Ruth M Brown, Garry K Brown, David R Thorburn, Avihu Boneh

JIMD Rep· December 2014

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A national perspective on prenatal testing for mitochondrial disease.
Victoria Nesbitt, Charlotte L Alston, Emma L Blakely, Carl Fratter, Catherine L Feeney, Garry K Brown

Eur J Hum Genet· November 2014

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Defects of thiamine transport and metabolism.
Garry Brown

J Inherit Metab Dis· July 2014

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R Baker, Marisa W Friederich, Michael A Swanson, Tamim Shaikh, Kaustuv Bhattacharya, Garry K Brown, Ruth M Brown

Brain· February 2014

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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Garry K Brown

Am J Hum Genet· February 2014

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Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Katherina Kastrissianakis, Geetha Anand, Gerardine Quaghebeur, Sue Price, Prab Prabhakar, Garry Brown

Arch Dis Child· December 2013

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Mercury concentrations, speciation, and isotopic composition in sediment from a cold seep in the northern Gulf of Mexico.
Garry Brown, Kenneth Sleeper, Marcus W Johnson, Joel D Blum, James V Cizdziel

Mar Pollut Bull· December 2013

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Sacha Ferdinandusse, Hans R Waterham, Simon J R Heales, Garry K Brown, Iain P Hargreaves

Orphanet J Rare Dis· December 2013

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Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Scot C Leary, Hana Antonicka, Florin Sasarman, Woranontee Weraarpachai, Paul A Cobine, Garry K Brown, Ruth Brown

Hum Mutat· October 2013

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SURF1 deficiency: a multi-centre natural history study.
Yehani Wedatilake, Ruth M Brown, Robert McFarland, Joy Yaplito-Lee, Andrew A M Morris, Garry K Brown

Orphanet J Rare Dis· July 2013

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The SFT-1 and OXA-1 respiratory chain complex assembly factors influence lifespan by distinct mechanisms in C. elegans.
Sara Maxwell, Joanne Harding, Charles Brabin, Peter J Appleford, Ruth Brown, Garry Brown

Longev Healthspan· May 2013

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β-Elimination of an Aziridine to an Allylic Amine: A Mechanistic Study.
Kathleen M Morgan, Garry Brown, Monique A Pichon, Geannette Y Green

J Phys Org Chem· December 2011

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