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

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100657-100657, Article 100657

2020

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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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Simultaneous determination of mercury and organic carbon in sediment and soils using a direct mercury analyzer based on thermal decomposition–atomic absorption spectrophotometry

Analytica chimica acta, 2015-04, Vol.871, p.9-17

2015

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Experimental study of multi-hole cooling for integrally-woven, ceramic matrix composite walls for gas turbine applications

International journal of heat and mass transfer, 2009-01, Vol.52 (3), p.971-985

2009

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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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A 3-dimensional, coupled, DNS, heat transfer model and solution for multi-hole cooling

International journal of heat and mass transfer, 2007-04, Vol.50 (7), p.1328-1343

2007

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Mercury concentrations, speciation, and isotopic composition in sediment from a cold seep in the northern Gulf of Mexico

Marine pollution bulletin, 2013-12, Vol.77 (1-2), p.308-314

2013

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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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β-Elimination of an aziridine to an allylic amine: a mechanistic study

Journal of physical organic chemistry, 2011-12, Vol.24 (12), p.1144-1150

2011

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JIMD Reports - Volume 11

2013, 2013

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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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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

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

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

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

Simultaneous determination of mercury and organic carbon in sediment and soils using a direct mercury analyzer based on thermal decomposition–atomic absorption spectrophotometry

Experimental study of multi-hole cooling for integrally-woven, ceramic matrix composite walls for gas turbine applications

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

A 3-dimensional, coupled, DNS, heat transfer model and solution for multi-hole cooling

Mercury concentrations, speciation, and isotopic composition in sediment from a cold seep in the northern Gulf of Mexico

Pyruvate dehydrogenase deficiency and the brain

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

β-Elimination of an aziridine to an allylic amine: a mechanistic study

JIMD Reports - Volume 11

Pyruvate dehydrogenase deficiency and the brain

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