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Endogenously oxidized mitochondrial DNA induces in vivo and in vitro inflammatory responses

Journal of leukocyte biology, 2004-06, Vol.75 (6), p.995-1000

2004

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Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0

The New England journal of medicine, 2007-10, Vol.357 (15), p.1507-1514

2007

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The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

Annals of neurology, 2001-03, Vol.49 (3), p.377-383

2001

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A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Orphanet journal of rare diseases, 2009-12, Vol.4 (1), p.28-28, Article 28

2009

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Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathy

Neuromuscular disorders : NMD, 2009-12, Vol.19 (12), p.833-836

2009

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2045-2054

2007

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Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

Pediatric research, 1990-08, Vol.28 (2), p.131-136

1990

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IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

Science (American Association for the Advancement of Science), 2010-10, Vol.330 (6002), p.336-336

2010

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Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.863-872

2015

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3-Methylcrotonyl-CoA Carboxylase Deficiency and Severe Multiple Sclerosis

Pediatric neurology, 2007-02, Vol.36 (2), p.132-134

2007

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Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.49-54

2012

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Deoxyribonucleotide Metabolism in Cycling and Resting Human Fibroblasts with a Missense Mutation in p53R2, a Subunit of Ribonucleotide Reductase

The Journal of biological chemistry, 2011-04, Vol.286 (13), p.11132-11140

2011

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Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

Human molecular genetics, 2013-06, Vol.22 (12), p.2411-2422

2013

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Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

Neuromuscular disorders : NMD, 2011-02, Vol.21 (2), p.115-120

2011

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain (London, England : 1878), 2009-11, Vol.132 (11), p.3165-3174

2009

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A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

European journal of pediatrics, 2010-02, Vol.169 (2), p.201-205

2010

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Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1

Mitochondrion, 2015-03, Vol.21, p.33-40

2015

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Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome

Pediatrics (Evanston), 2010-07, Vol.126 (1), p.e235-e238

2010

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Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl‐tRNA synthetase and prolyl‐tRNA synthetase, in patients with Alpers syndrome

Molecular genetics & genomic medicine, 2015-01, Vol.3 (1), p.59-68

2015

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Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

British journal of ophthalmology, 2010-01, Vol.94 (1), p.121-127

2010

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Subnormal levels of POL[gamma]A cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

Human molecular genetics, 2013-06, Vol.22 (12), p.2411-2422

2013

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NONTRANSPLANT TREATMENT OF TYROSINEMIA

Clinics in liver disease, 2000-11, Vol.4 (4), p.805-814

2000

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Subnormal levels of POLgA cause inefﬁcient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia

Human molecular genetics, 2013, Vol.22 (12), p.2411

2013

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A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

Neuromuscular disorders : NMD, 2009-02, Vol.19 (2), p.147-150

2009

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Endogenously oxidized mitochondrial DNA induces in vivo and in vitro inflammatory responses

Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0

The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathy

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

3-Methylcrotonyl-CoA Carboxylase Deficiency and Severe Multiple Sclerosis

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

Deoxyribonucleotide Metabolism in Cycling and Resting Human Fibroblasts with a Missense Mutation in p53R2, a Subunit of Ribonucleotide Reductase

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1

Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl‐tRNA synthetase and prolyl‐tRNA synthetase, in patients with Alpers syndrome

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

Subnormal levels of POL[gamma]A cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

NONTRANSPLANT TREATMENT OF TYROSINEMIA

Subnormal levels of POLgA cause inefﬁcient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

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