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Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

Diabetic medicine, 2008-04, Vol.25 (4), p.383-399

2008

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Review: Central nervous system involvement in mitochondrial disease

Neuropathology and applied neurobiology, 2017-02, Vol.43 (2), p.102-118

2017

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Batteries not included: diagnosis and management of mitochondrial disease

Journal of internal medicine, 2009-02, Vol.265 (2), p.210-228

2009

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The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

American journal of human genetics, 2003-02, Vol.72 (2), p.333-339

2003

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Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection

American journal of human genetics, 2004-02, Vol.74 (2), p.229-238

2004

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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

Neurology, 2005-04, Vol.64 (7), p.1204-1208

2005

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Leber hereditary optic neuropathy

Journal of medical genetics, 2002-03, Vol.39 (3), p.162-169

2002

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Mutations of the mitochondrial ND1 gene as a cause of MELAS

Journal of medical genetics, 2004-10, Vol.41 (10), p.784-789

2004

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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

Neurology, 2010-05, Vol.74 (20), p.1619-1626

2010

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URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

Neurology, 2009-02, Vol.72 (6), p.568-569

2009

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A case‐comparison study of pregnant women with mitochondrial disease – what to expect?

BJOG : an international journal of obstetrics and gynaecology, 2019-10, Vol.126 (11), p.1380-1389

2019

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Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age

American journal of human genetics, 2001-03, Vol.68 (3), p.802-806

2001

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The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head

British journal of ophthalmology, 2004-02, Vol.88 (2), p.286-290

2004

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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Nature genetics, 1999-10, Vol.23 (2), p.147-147

1999

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The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates

American journal of human genetics, 2003-03, Vol.72 (3), p.659-670

2003

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The epidemiology of pathogenic mitochondrial DNA mutations

Annals of neurology, 2000-08, Vol.48 (2), p.188-193

2000

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RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Neurology, 2011-06, Vol.76 (23), p.2032-2034

2011

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Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

Journal of medical genetics, 2006-02, Vol.43 (2), p.175-179

2006

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Mitochondrial disease in adults: a scale to monitor progression and treatment

Neurology, 2006-06, Vol.66 (12), p.1932-1934

2006

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Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

Neuropathology and applied neurobiology, 2006-08, Vol.32 (4), p.359-373

2006

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Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets

Diabetologia, 2008-08, Vol.51 (8), p.1440-1443

2008

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MELAS associated with mutations in the POLG1 gene

Neurology, 2007-05, Vol.68 (20), p.1741-1742

2007

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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Neurology, 2003-04, Vol.60 (8), p.1354-1356

2003

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Transmission of mitochondrial DNA disorders: possibilities for the future

The Lancet (British edition), 2006-07, Vol.368 (9529), p.87-89

2006

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Mitochondrial changes within axons in multiple sclerosis

Brain (London, England : 1878), 2009-05, Vol.132 (5), p.1161-1174

2009

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Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

Review: Central nervous system involvement in mitochondrial disease

Batteries not included: diagnosis and management of mitochondrial disease

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

Leber hereditary optic neuropathy

Mutations of the mitochondrial ND1 gene as a cause of MELAS

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

A case‐comparison study of pregnant women with mitochondrial disease – what to expect?

Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age

The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates

The epidemiology of pathogenic mitochondrial DNA mutations

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

Mitochondrial disease in adults: a scale to monitor progression and treatment

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets

MELAS associated with mutations in the POLG1 gene

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Transmission of mitochondrial DNA disorders: possibilities for the future

Mitochondrial changes within axons in multiple sclerosis

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