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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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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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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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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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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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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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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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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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JIMD Reports Volume 16

2014, 2014

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JIMD Reports - Volume 10

2013, 2012

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JIMD Reports, Volume 14

2014, 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, 2009-12, Vol.18 (24), p.4905-4906

2009

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JIMD Reports - Case and Research Reports, Volume 13

2014, 2013

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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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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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Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

JIMD Reports, Volume 15, 2015-01, Vol.15, p.39-45

2015

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AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

JIMD Reports, Volume 14, 2014-01, Vol.14, p.77-85

2014

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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

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

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

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

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

Pyruvate dehydrogenase deficiency and the brain

JIMD Reports - Volume 11

Pyruvate dehydrogenase deficiency and the brain

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

JIMD Reports Volume 16

JIMD Reports - Volume 10

JIMD Reports, Volume 14

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

JIMD Reports - Case and Research Reports, Volume 13

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

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

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

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