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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a

2018

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Chromosome arm aneuploidies shape tumour evolution and drug response

Nature communications, 2020-01, Vol.11 (1), p.449-14, Article 449

2020

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A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

Scientific reports, 2015-10, Vol.5 (1), p.15037-15037, Article 15037

2015

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Molecular patterns in salivary duct carcinoma identify prognostic subgroups

Modern pathology, 2020-10, Vol.33 (10), p.1896-1909

2020

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Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

PloS one, 2014-12, Vol.9 (12), p.e114462

2014

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Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Annals of clinical and translational neurology, 2018-03, Vol.5 (3), p.333-345

2018

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Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Annals of neurology, 2016-11, Vol.80 (5), p.686-692

2016

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Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations

PLoS genetics, 2012-11, Vol.8 (11), p.e1003082-e1003082

2012

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Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

Scientific reports, 2015-05, Vol.5 (1), p.9906, Article 9906

2015

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Translocation Breakpoints Preferentially Occur in Euchromatin and Acrocentric Chromosomes

Cancers, 2018-01, Vol.10 (1), p.13

2018

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Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology

NPJ precision oncology, 2021-06, Vol.5 (1), p.58-58, Article 58

2021

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Subclonal evolution in disease progression from MGUS/SMM to multiple myeloma is characterised by clonal stability

Leukemia, 2019-02, Vol.33 (2), p.457-468

2019

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A signal-seeking Phase 2 study of olaparib and durvalumab in advanced solid cancers with homologous recombination repair gene alterations

British journal of cancer, 2023-08, Vol.129 (3), p.475-485

2023

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Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study

Pulmonary circulation, 2018-04, Vol.8 (2), p.1-5

2018

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Disease progression in patients with single, large-scale mitochondrial DNA deletions

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.323-334

2014

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Respiratory chain deficiency in aged spinal motor neurons

Neurobiology of aging, 2014-10, Vol.35 (10), p.2230-2238

2014

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Mitochondrial Donation — How Many Women Could Benefit?

The New England journal of medicine, 2015-02, Vol.372 (9), p.885-887

2015

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Mitochondrial and inflammatory changes in sporadic inclusion body myositis

Neuropathology and applied neurobiology, 2015-04, Vol.41 (3), p.288-303

2015

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Mitochondrial dysfunction within the synapses of substantia nigra neurons in Parkinson's disease

NPJ Parkinson's Disease, 2018-03, Vol.4 (1), p.9-10, Article 9

2018

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Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

European heart journal, 2016-08, Vol.37 (32), p.2552-2559

2016

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Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Annals of neurology, 2018-01, Vol.83 (1), p.115-130

2018

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Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

Nucleic acids research, 2016-06, Vol.44 (11), p.5313

2016

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Cutting edge genomics reveal new insights into tumour development, disease progression and therapeutic impacts in multiple myeloma

British journal of haematology, 2017-07, Vol.178 (2), p.196-208

2017

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Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

Brain pathology (Zurich, Switzerland), 2019-01, Vol.29 (1), p.97-113

2019

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Decreased male reproductive success in association with mitochondrial dysfunction

European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1162-1164

2017

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

Chromosome arm aneuploidies shape tumour evolution and drug response

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

Molecular patterns in salivary duct carcinoma identify prognostic subgroups

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations

Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

Translocation Breakpoints Preferentially Occur in Euchromatin and Acrocentric Chromosomes

Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology

Subclonal evolution in disease progression from MGUS/SMM to multiple myeloma is characterised by clonal stability

A signal-seeking Phase 2 study of olaparib and durvalumab in advanced solid cancers with homologous recombination repair gene alterations

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Respiratory chain deficiency in aged spinal motor neurons

Mitochondrial Donation — How Many Women Could Benefit?

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

Mitochondrial dysfunction within the synapses of substantia nigra neurons in Parkinson's disease

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

Cutting edge genomics reveal new insights into tumour development, disease progression and therapeutic impacts in multiple myeloma

Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

Decreased male reproductive success in association with mitochondrial dysfunction

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