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Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

Nature genetics, 1997-05, Vol.16 (1), p.93-95

1997

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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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Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

Journal of medical genetics, 2004-07, Vol.41 (7), p.540-544

2004

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Expression and Functional Analysis of SURF1 in Leigh Syndrome Patients With Cytochrome c Oxidase Deficiency

Human molecular genetics, 1999-12, Vol.8 (13), p.2541-2549

1999

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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

Nature genetics, 1996-10, Vol.14 (2), p.146-151

1996

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

Human molecular genetics, 2000-03, Vol.9 (5), p.795-801

2000

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The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

Human molecular genetics, 2011-12, Vol.20 (23), p.4634-4643

2011

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Gene Shifting: A Novel Therapy for Mitochondrial Myopathy

Human molecular genetics, 1999-06, Vol.8 (6), p.1047-1052

1999

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Nuclear genetic defects of oxidative phosphorylation

Human molecular genetics, 2001-10, Vol.10 (20), p.2277-2284

SHOUBRIDGE, Eric A

2001

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Nuclear genetic defects of oxidative phosphorylation

Human molecular genetics, 2001-10, Vol.10 (20), p.2277-2284

Shoubridge, E A

2001

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Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy

Neurology, 1998-02, Vol.50 (2), p.417

1998

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Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Neurology, 2001-10, Vol.57 (8), p.1440

2001

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Mitochondrial DNA segregation in the developing embryo

Human reproduction (Oxford), 2000-07, Vol.15 (suppl-2), p.229-234

Shoubridge, Eric A

2000

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Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency

The Journal of biological chemistry, 2003-10, Vol.278 (44), p.43081-43088

2003

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Complete Restoration of a Wild-Type mtDNA Genotype in Regenerating Muscle Fibres in a Patient with a tRNA Point Mutation and Mitochondrial Encephalomyopathy

Human molecular genetics, 1997-12, Vol.6 (13), p.2239-2242

1997

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Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation

Neuropediatrics, 2006-04, Vol.37 (2), p.88

2006

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

Human molecular genetics, 2003-10, Vol.12 (20), p.2693-2702

2003

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Late-onset mitochondrial myopathy

Annals of neurology, 1995-01, Vol.37 (1), p.16-23

1995

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A debut for mito-mouse

Nature genetics, 2000-10, Vol.26 (2), p.132-134

Shoubridge, Eric A

2000

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Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Human genetics, 2000-02, Vol.106 (2), p.194-205

2000

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Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect

American journal of human genetics, 2000, Vol.66 (1), p.332-335

2000

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Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

Cell, 1990-07, Vol.62 (1), p.43-49

1990

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Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects

Annals of neurology, 2001-08, Vol.50 (2), p.133-141

2001

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Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

American journal of human genetics, 1992-12, Vol.51 (6), p.1187-1200

1992

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Nuclear genetic control of mitochondrial DNA segregation

Nature genetics, 2003-02, Vol.33 (2), p.183-186

2003

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Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

Expression and Functional Analysis of SURF1 in Leigh Syndrome Patients With Cytochrome c Oxidase Deficiency

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

Gene Shifting: A Novel Therapy for Mitochondrial Myopathy

Nuclear genetic defects of oxidative phosphorylation

Nuclear genetic defects of oxidative phosphorylation

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Mitochondrial DNA segregation in the developing embryo

Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency

Complete Restoration of a Wild-Type mtDNA Genotype in Regenerating Muscle Fibres in a Patient with a tRNA Point Mutation and Mitochondrial Encephalomyopathy

Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

Late-onset mitochondrial myopathy

A debut for mito-mouse

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

Nuclear genetic control of mitochondrial DNA segregation

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