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Defects of thiamine transport and metabolism

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.577-585

Brown, Garry

2014

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An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

American journal of human genetics, 2012-10, Vol.91 (4), p.737-743

2012

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

American journal of human genetics, 2014-02, Vol.94 (2), p.209-222

2014

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Orphanet journal of rare diseases, 2013-12, Vol.8 (1), p.188-188, Article 188

2013

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

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.387-388

2015

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

Brain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3503-3519

2015

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SURF1 deficiency: a multi-centre natural history study

Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.96-96, Article 96

2013

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A national perspective on prenatal testing for mitochondrial disease

European journal of human genetics : EJHG, 2014-11, Vol.22 (11), p.1255-1259

2014

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

Human genetics, 2019-12, Vol.138 (11-12), p.1313-1322

2019

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

European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.935-939

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

Journal of neuropathology and experimental neurology, 2015-07, Vol.74 (7), p.688-703

2015

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Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

Human mutation, 2013-10, Vol.34 (10), p.1366-1370

2013

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SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Nature genetics, 1998-12, Vol.20 (4), p.337-343

1998

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Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

Human molecular genetics, 2008-08, Vol.17 (16), p.2496-2506

2008

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Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

American journal of human genetics, 2007-01, Vol.80 (1), p.195-199

2007

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Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

Annals of neurology, 2005-08, Vol.58 (2), p.234-241

2005

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Pyruvate dehydrogenase deficiency and the brain

Developmental medicine and child neurology, 2012-05, Vol.54 (5), p.395-396

BROWN, GARRY

2012

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Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

European journal of paediatric neurology, 2010-07, Vol.14 (4), p.349-353

2010

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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

Human genetics, 2008-09, Vol.124 (2), p.187-193

2008

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A SURF1 gene mutation presenting as isolated leukodystrophy

Annals of neurology, 2001-06, Vol.49 (6), p.797-800

2001

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Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

Archives of disease in childhood, 2013-12, Vol.98 (12), p.1004-1007

2013

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Pyruvate dehydrogenase E3 binding protein deficiency

Human genetics, 2002-02, Vol.110 (2), p.187-191

2002

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Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.2079-2084

2010

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Defects of thiamine transport and metabolism

An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

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

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

SURF1 deficiency: a multi-centre natural history study

A national perspective on prenatal testing for mitochondrial disease

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

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

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

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

Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

Pyruvate dehydrogenase deficiency and the brain

Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

A SURF1 gene mutation presenting as isolated leukodystrophy

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Pyruvate dehydrogenase E3 binding protein deficiency

Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features

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