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

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379

2014

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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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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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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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Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.459-467

2012

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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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Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

The journal of histochemistry and cytochemistry, 2002-07, Vol.50 (7), p.877-884

2002

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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Human mutation, 2000-01, Vol.15 (3), p.209-219

2000

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Pyruvate dehydrogenase deficiency presenting as dystonia in childhood

Developmental medicine and child neurology, 2004-10, Vol.46 (10), p.710-712

2004

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Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form

Human molecular genetics, 1993-01, Vol.2 (1), p.23-30

1993

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Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?

Human molecular genetics, 1994-06, Vol.3 (6), p.947-951

1994

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Molecular weight differences between human platelet and placental monoamine oxidase

Biochemical pharmacology, 1980-10, Vol.29 (19), p.2595-2603

1980

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Cerebral dysgenesis and lactic acidemia: An MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency

Pediatric neurology, 1994-10, Vol.11 (3), p.224-229

1994

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Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

Annals of neurology, 1994-07, Vol.36 (1), p.83-89

1994

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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

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

SURF1 deficiency: a multi-centre natural history study

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

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

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

Pyruvate dehydrogenase E3 binding protein deficiency

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

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

Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form

Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?

Molecular weight differences between human platelet and placental monoamine oxidase

Cerebral dysgenesis and lactic acidemia: An MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

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