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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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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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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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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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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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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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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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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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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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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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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 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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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

JIMD Reports, Volume 15, 2015, Vol.15, p.13-27

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, 2009-12, Vol.18 (24), p.4905-4906

2009

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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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Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

Human genetics, 2004-07, Vol.115 (2), p.123-127

2004

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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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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

EMBO molecular medicine, 2018-11, Vol.10 (11), p.n/a

2018

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

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

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

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

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

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

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

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

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

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

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

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

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

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

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

A SURF1 gene mutation presenting as isolated leukodystrophy

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase E3 binding protein deficiency

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

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