List of works by Robert William Taylor

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

scientific article published on 04 June 2019

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

scientific article published on 01 December 2018

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

scientific article published on 19 September 2011

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

scientific article published in May 2003

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

scientific article published on 9 April 2008

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

scientific article published on 11 December 2015

A methodological approach to tracing cell lineage in human epithelial tissues

scientific article published on June 2009

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

scientific article

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

scientific article published on 21 June 2007

A national perspective on prenatal testing for mitochondrial disease

scientific article

A neurological perspective on mitochondrial disease.

scientific article published on August 2010

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features

scientific article published in March 2009

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

scientific article published on 28 January 2005

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

scientific article (publication date: September 2003)

A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

scientific article published on 01 December 2019

A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency.

scientific article published on 16 April 2018

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

scientific article

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

scientific article published on 16 October 2017

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

scientific article

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy

scientific article published on 13 November 2014

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

scientific article

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

scientific article published on 16 December 2009

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance

article

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

scientific article published on 21 August 2019

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

scientific article

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

scientific article published on 22 April 2019

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

scientific article published in June 2004

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

scientific article

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

scientific article published on 24 June 2020

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

scientific article published on 04 December 2011

A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report

scientific article published in 2009

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.

scientific article

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

scientific article published on 26 May 2015

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

scientific article published on 18 April 2016

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

scientific article published on 01 June 2003

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

scientific article

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

scientific article

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

scientific article

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

scientific article

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

scientific article published on October 2015

Adult-onset Mendelian PEO Associated with Mitochondrial Disease

scientific article published on January 2014

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

scientific article

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

scientific article

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

scientific article

Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis

scientific article published on 21 September 2020

Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts

scientific article

Albinism and a mitochondrial DNA deletion

scientific article published on 15 April 2020

An external pilot study to test the feasibility of a randomised controlled trial comparing eye muscle surgery against active monitoring for childhood intermittent exotropia [X(T)].

scientific article published on May 2015

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

scientific article published on 29 March 2007

Assessment of mitochondrial respiratory chain enzymes in cells and tissues

scientific article published on 14 December 2019

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

scientific article

Authors' response: After intermittent exotropia surgery, consecutive esotropia: good or bad? by K K Shoaib

scientific article published on 14 March 2013

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

article

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

scientific article published on 24 September 2020

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

scientific article published on 28 November 2019

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

scientific article

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation

scientific article published on 10 April 2013

Biochemical assays of respiratory chain complex activity

scientific article published on January 2007

Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy

scientific article

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

scientific article published on 25 March 2016

Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired ⬇️

scientific article published on October 1, 2003

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

scientific article published on 5 April 2017

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

scientific article

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

scientific article

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

scientific article

Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency

scientific article

Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study

scientific article

Changes in the human mitochondrial genome after treatment of malignant disease.

scientific article published in April 2003

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

scientific article

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

scientific article published in October 2004

Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1

scientific article published on 14 April 2020

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

scientific article published on 10 April 2017

Clinical and biochemical features associated with BCS1L mutation.

scientific article published on 19 September 2012

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

scientific article published on 8 December 2013

Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment

scientific article published on May 2015

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

scientific article published on 17 August 2016

Clinical presentation and proteomic signature of patients with TANGO2 mutations

scientific article published on 13 August 2019

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

scientific article published on 25 April 2016

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

scientific article

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

scientific article

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

scientific article published on 14 April 2015

Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.

scientific article

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

scientific article

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

scientific article published in January 2015

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma

scientific article

Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability

article

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

scientific article

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

scientific article published on 26 February 2015

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

scientific article published on 30 April 2016

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

scientific article

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

scientific article published on 4 November 2012

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

scientific article published on 01 August 2018

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

scientific article published on 16 September 2019

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

scientific article published in Nature Communications

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article published on 28 July 2015

Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy

scientific article

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

scientific article published on 22 September 2017

De novo mtDNA point mutations are common and have a low recurrence risk.

scientific article

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

scientific article (publication date: 2004)

Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry

scientific article published on 18 September 2020

Decreased male reproductive success in association with mitochondrial dysfunction

scientific article published on 16 August 2017

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

scientific article

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

scientific article published on 6 March 2018

Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts

scientific article

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

scientific article published on 03 June 2013

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

scientific article published in September 2006

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

scientific article published on July 2002

Detection of mitochondrial DNA variation in human cells

scientific article published on January 2010

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

scientific article published on 24 June 2021

Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number

scientific article

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

scientific article published on 31 May 2007

Diagnostic investigations of patients with chronic progressive external ophthalmoplegia

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

scientific article

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

scientific article published on 14 March 2007

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.

scientific article published on 23 November 2017

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

scientific article

Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.

scientific article

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

scientific article published on 09 October 2018

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation

scientific article

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

scientific article published on 4 April 2006

Dysferlin mutations and mitochondrial dysfunction

scientific article (publication date: November 2016)

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

scientific article

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

scientific article published in February 2013

Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

scientific article published on 02 June 2020

Endocrine disorders in mitochondrial disease.

scientific article published on 13 June 2013

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions

scientific article published on 3 November 2006

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

scientific article

Epilepsy in adults with mitochondrial disease: A cohort study.

scientific article published on 18 September 2015

Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration

scientific article published on 03 November 2010

Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches

scientific article

Expanding the clinical phenotype of IARS2-related mitochondrial disease

scientific article published on 12 November 2018

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

scientific article published on 20 July 2018

Experimental strategies towards treating mitochondrial DNA disorders

scientific article published on June 2007

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia

scientific article

FBXL4 deficiency increases mitochondrial removal by autophagy

scientific article published on 11 June 2020

False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms

scientific article published on 01 January 2004

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

scientific article published in April 2004

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

scientific article published on 11 November 2015

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases

scientific article published on 16 October 2017

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

scientific article

Gene therapy for the treatment of mitochondrial DNA disorders

scientific article

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 2017

Genetic diagnosis of Mendelian disorders via RNA sequencing

article

Genotypes from patients indicate no paternal mitochondrial DNA contribution

scientific article published on 01 October 2003

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

scientific article published on 01 June 2019

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

scientific article (publication date: May 2006)

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

scientific article published on January 2017

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

scientific article published on 3 March 2016

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

scientific article published on 11 March 2019

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

scientific article published on 14 November 2019

Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure

scientific article published on 30 September 2015

In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells.

scientific article

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

scientific article published on 30 July 2016

Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease

scientific article published on 01 March 2013

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies

scientific article published on 17 September 2007

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations

scientific article published on 05 November 2018

Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects

scientific article published on 29 March 2013

Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.

scientific article

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

article

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

scientific article published on 04 September 2015

Investigation of the mitochondrial genome in patients with atypical motor neuron disease

scientific article published on 31 March 2007

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

scientific article published in September 2010

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

scientific article published on 26 September 2011

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

article

LONP1 and mtHSP70 cooperate to promote mitochondrial protein folding

scientific article published on 11 January 2021

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

scientific article published on 27 October 2015

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

scientific article

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

scientific article published on 01 February 2002

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

scientific article

Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls

scientific article published on 28 November 2019

Locating the stem cell niche and tracing hepatocyte lineages in human liver

scientific article

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

scientific article published on 24 April 2010

Loss of myelin-associated glycoprotein in kearns-sayre syndrome

scientific article published on April 2012

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

scientific article published on 3 January 2018

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

scientific article published on 13 January 2016

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

scientific article

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

scientific article published on February 2017

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

scientific article published on 24 February 2018

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

scientific article

Maternally inherited mitochondrial DNA disease in consanguineous families

scientific article published on 29 June 2011

Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells

scientific article

Metabolic effects of bezafibrate in mitochondrial disease

scientific article published on 28 February 2020

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease

scientific article

Mitochondrial DNA abnormalities in ophthalmological disease

scientific article published on 18 February 2011

Mitochondrial DNA and disease

scientific article published on 21 November 2011

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

scientific article

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

scientific article published on 11 July 2013

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

scientific article published on 07 July 2012

Mitochondrial DNA mutations and human disease

scientific article published on 15 September 2009

Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

scholarly article

Mitochondrial DNA mutations in human colonic crypt stem cells

scientific article published on November 2003

Mitochondrial DNA mutations in human disease

scientific article

Mitochondrial DNA mutations in human disease

scientific article published on 01 March 2006

Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed-Sternberg cells

scientific article published on 07 April 2020

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial DNA transcription: regulating the power supply.

scientific article published in July 2007

Mitochondrial Donation - Which Women Could Benefit?

scientific article published on 01 May 2019

Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways

scientific article published on 28 May 2020

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

scientific journal article

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

scientific article published on April 2015

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis

scientific article published on July 2002

Mitochondrial dysfunction in myofibrillar myopathy.

scientific article published on 10 August 2016

Mitochondrial dysfunction in osteoarthritis is associated with down-regulation of superoxide dismutase 2.

scientific article

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

scientific article published on 8 March 2018

Mitochondrial pathology in progressive cerebellar ataxia

scientific article

Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period.

scientific article published in September 2006

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study

scientific article published on 20 December 2011

Mitochondrial stress response triggered by defects in protein synthesis quality control

scientific article published on 25 January 2019

Mitochondrial tRNA mutations and disease

scientific article

Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity

scientific article published on November 2010

Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: link to colon cancer?

scholarly article

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

scientific article published on 01 November 2019

Mosaic dysfunction of mitophagy in mitochondrial muscle disease

scientific article published on 13 January 2022

Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

scientific article published in March 2006

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

scientific article published on 22 January 2002

Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates

scientific article published on August 2017

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

scientific article published on 18 March 2020

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

scientific article

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

scientific article

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

scientific article published on 24 October 2013

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

scientific article published on 01 April 2007

Mutations causing mitochondrial disease: What is new and what challenges remain?

scientific article published on 24 September 2015

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

article

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

scientific article

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

scientific article

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

scientific article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

scientific article published on 19 July 2012

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy

scientific article published on 01 December 2018

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

scientific article published on 01 January 2019

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

scientific article

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

article

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

scientific article published on 19 December 2016

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

scientific article published in December 2013

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

scientific article published on 27 November 2017

Neuromuscular disease presentation with three genetic defects involving two genomes

scientific article published on 22 October 2009

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

scientific article published on July 2015

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

scientific article

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

scientific article published on 26 October 2017

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

scientific article published on 25 February 2020

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

scientific article

Novel Mitochondrial Transfer RNAPhe Gene Mutation Associated With Late-Onset Neuromuscular Disease

article

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia

scientific article

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

article

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

scientific article published on 27 May 2008

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

scientific article published on 17 December 2010

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

scientific article

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

scientific article

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

scientific article published on 15 December 2017

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

scientific article published in July 2005

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

scientific article published on 8 April 2008

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

scientific article

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

scientific article

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

scientific article published on 16 November 2016

POLRMT mutations impair mitochondrial transcription causing neurological disease

scientific article published on 18 February 2021

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

scientific article published on 19 December 2019

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

scientific article

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

scientific article

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

scientific article

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

scientific article published on 23 June 2016

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

scientific article published on 30 September 2016

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

scientific article published in August 2019

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

scientific article

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

scientific article published on 19 October 2016

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

scientific article published on 4 August 2015

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation

scientific article published on 01 October 2009

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

scientific article published on 7 February 2018

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant

scientific article published on 20 July 2017

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo

scientific article published on 29 January 2018

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

scientific article published on June 2015

Prevalence and severity of voice and swallowing difficulties in mitochondrial disease

scientific article published on 20 June 2011

Prevalence of mitochondrial DNA disease in adults

scientific article

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

scientific article published on 28 March 2015

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

scientific article

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

scientific article published on 05 March 2020

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

scientific article

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

scientific article published on 25 July 2016

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

scientific article published on 15 January 2019

Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

scientific article

RRM2B-Related Mitochondrial Disease

Recent Advances in Mitochondrial Disease

scientific article

Recent advances in understanding the molecular genetic basis of mitochondrial disease

scientific article published on 10 May 2019

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

scientific article

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

scientific article published on 11 April 2013

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

scientific article

Recessive spastic paraparesis associated with complex I deficiency due toMTHFRmutations

article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

scientific article published on December 2016

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

scientific article published on 30 January 2020

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

scientific article published on 5 November 2015

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

scientific article published in November 2008

Resolving complexity in mitochondrial disease: Towards precision medicine

scientific article published on 14 September 2019

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

scientific article

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.

scientific article

Retrospective natural history of thymidine kinase 2 deficiency.

scientific article

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

scientific article

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

scientific article

SURF1 deficiency: a multi-centre natural history study.

scientific article published on 05 July 2013

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

scientific article published on 23 October 2020

Scientific and Ethical Issues in Mitochondrial Donation.

scientific article published in April 2018

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

scientific article

Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

scientific article

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

scientific article published on 20 December 2011

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.

scientific article published on 31 December 2015

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

article

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

scientific article published in April 2018

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles

scientific article

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

article

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

scientific article

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation

scientific article published on 06 April 2007

Strategies for treating disorders of the mitochondrial genome

scientific article

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

scientific article

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

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

scientific article

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

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

scientific article published on 17 July 2015

Surgery versus Active Monitoring in Intermittent Exotropia (SamExo): study protocol for a pilot randomised controlled trial

scientific article

Surgical intervention in childhood intermittent exotropia: current practice and clinical outcomes from an observational cohort study

scientific article published on 11 August 2012

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach

scientific article published in June 2007

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism

scientific article published on March 2015

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

scientific article published on 10 August 2016

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

scientific article published on 25 January 2013

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

scientific article

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

scientific article

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

scientific article published on 13 July 2016

The diagnosis of mitochondrial muscle disease.

scientific article published on April 2004

The epidemiology of mitochondrial disorders--past, present and future

scientific article

The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson's disease

scientific article published on 15 June 2020

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

scientific article published on 20 May 2016

The genetic basis of isolated mitochondrial complex II deficiency

scientific article published on 03 October 2020

The genetics and pathology of mitochondrial disease.

scientific article published on 23 September 2016

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

The improving outcomes in intermittent exotropia study: outcomes at 2 years after diagnosis in an observational cohort

scientific article

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

scientific article published on 18 February 2010

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

scientific article published on 10 January 2014

The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons

scientific article published on 31 May 2009

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

scientific article published on 22 April 2016

The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant

scientific article published on 29 May 2020

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

scientific article published on 27 December 2012

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

scientific article published on 06 September 2007

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

scientific article published on 29 August 2019

The neurology of mitochondrial DNA disease.

scientific article

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families ⬇️

scientific article published on September 6, 2010

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

scientific article

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.

scientific article published on 5 September 2015

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

scientific article

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

scientific article

The swinging pendulum of biomarkers in mitochondrial disease

scientific article published on 28 October 2016

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

article

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

scientific article published on 18 July 2017

Three families with 'de novo' m.3243A > G mutation

scientific article published on 29 April 2016

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

scientific article published on 14 December 2017

Toward a mtDNA locus-specific mutation database using the LOVD platform

scientific article

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

scientific article

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

scientific article published on 17 September 2020

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

scientific article published on 01 August 2019

Universal heteroplasmy of human mitochondrial DNA.

scientific article

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

scientific article published in July 2014

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

scientific article published on 15 November 2017

What causes mitochondrial DNA deletions in human cells?

scientific article published on March 2008

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

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

scientific article published in June 2018

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

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