List of works - Robert McFarland

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

scientific article published on 27 March 2019

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

scientific article published on 19 September 2011

A national perspective on prenatal testing for mitochondrial disease

scientific article

A neurological perspective on mitochondrial disease.

scientific article published on August 2010

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

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

scientific article

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 scale to monitor progression and treatment of mitochondrial disease in children.

scientific article published on 22 November 2006

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

scientific article

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

scientific article

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

scientific article

Autosomal dominant acute necrotising encephalopathy: a case report with possible disease-expression modification by coincidental homocysteinuria.

scientific article

Batteries not included: diagnosis and management of mitochondrial disease.

scientific article published on February 2009

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

article

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

scientific article published on 16 February 2018

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

scientific article published on 25 March 2016

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

scientific article

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

scientific article

Causes of Death in Adults with Mitochondrial Disease

scientific article published on 10 September 2015

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

scientific article published in October 2004

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

scientific article published on 10 April 2017

Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.

scientific article published in May 2009

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

scientific article published on 14 April 2015

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

scientific article published in January 2015

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

article

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

scientific article

Consensus-based statements for the management of mitochondrial stroke-like episodes

scientific article published on 13 December 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

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)

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

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

scientific article published on 03 June 2013

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

scientific article published on 31 May 2007

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

scientific article published on 23 October 2013

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

scientific article

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

scientific article published on 09 October 2018

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

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease

scientific article published on 26 September 2017

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

scientific article published in April 2004

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

scientific article published on 01 June 2019

Homoplasmy, heteroplasmy, and mitochondrial dystonia

scientific article published on 01 August 2007

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

scientific article published on 30 July 2016

Initial development and validation of a mitochondrial disease quality of life scale.

scientific article published on 20 February 2013

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

article

International Paediatric Mitochondrial Disease Scale

scientific article

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy

scientific article published on 8 September 2017

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

scientific article published on 27 October 2015

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

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

scientific article

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

scientific article published on 24 February 2018

Maternally inherited mitochondrial DNA disease in consanguineous families

scientific article published on 29 June 2011

Mitochondrial Donation - Which Women Could Benefit?

scientific article published on 01 May 2019

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

scientific article published on 01 June 2006

Mitochondrial disease in pregnancy: a systematic review

scientific article published on 23 June 2011

Mitochondrial disease--its impact, etiology, and pathology.

scientific article published on January 2007

Mitochondrial diseases

Mitochondrial diseases in childhood: a clinical approach to investigation and management.

scientific article published on 05 January 2010

Mitochondrial donation: from test tube to clinic

scientific article published in The Lancet

Mitochondrial myopathies in adults and children: management and therapy development.

scientific article published on October 2014

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

scientific article published on 20 December 2011

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Multi-system neurological disease is common in patients with OPA1 mutations

scientific article

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

scientific article published on 22 January 2002

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

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 published in October 2013

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 ND1 gene as a cause of MELAS.

scientific article published in October 2004

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

scientific article published on 01 December 2018

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

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

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

scientific article

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

scientific article published on 17 December 2010

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

scientific article published on 20 September 2016

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

scientific article published on 19 July 2018

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

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 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

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

scientific article

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

Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation.

scientific article published in April 2008

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

scientific article published on June 2015

Prevalence and progression of diabetes in mitochondrial disease

scientific article published on 26 July 2007

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

Proving pathogenicity: when evolution is not enough

scientific article published on 01 November 2004

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

scientific article published on 25 July 2016

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

scientific article published on 13 September 2016

Rapid-onset, linezolid-induced lactic acidosis in MELAS ⬇️

scientific article published on 01 September 2011

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

article

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

scientific article

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency ⬇️

scientific article published on September 1, 2012

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

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

scientific article

Retrospective natural history of thymidine kinase 2 deficiency

scientific article

SURF1 deficiency: a multi-centre natural history study.

scientific article published on 05 July 2013

Scientific and Ethical Issues in Mitochondrial Donation

scientific article published in April 2018

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

scientific article published on 20 April 2016

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

scientific article published on 06 April 2007

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

Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?

scientific article published on 18 October 2018

Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.

scientific article published on October 2016

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 presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.

scientific article published on 12 September 2009

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 genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

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 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 anaemia negatively influences survival in patients with POLG disease

scientific article published on September 2017

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

article

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

scientific article

Unilateral Horner's syndrome: an unusual childhood presentation

scientific article published on 01 November 2010

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

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

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

List of works by Robert McFarland

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

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

A national perspective on prenatal testing for mitochondrial disease

A neurological perspective on mitochondrial disease.

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

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

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

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

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

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

A scale to monitor progression and treatment of mitochondrial disease in children.

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

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

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

Autosomal dominant acute necrotising encephalopathy: a case report with possible disease-expression modification by coincidental homocysteinuria.

Batteries not included: diagnosis and management of mitochondrial disease.

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

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

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

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

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

Causes of Death in Adults with Mitochondrial Disease

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

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

Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.

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

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

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

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

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

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

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

Consensus-based statements for the management of mitochondrial stroke-like episodes

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

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

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

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

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

Decreased male reproductive success in association with mitochondrial dysfunction

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

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

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

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

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

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

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

Epilepsy in adults with mitochondrial disease: A cohort study.

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease

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

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

Homoplasmy, heteroplasmy, and mitochondrial dystonia

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

Initial development and validation of a mitochondrial disease quality of life scale.

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

International Paediatric Mitochondrial Disease Scale

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy

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

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

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

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

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

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

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

Maternally inherited mitochondrial DNA disease in consanguineous families

Mitochondrial Donation - Which Women Could Benefit?

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

Mitochondrial disease in pregnancy: a systematic review

Mitochondrial disease--its impact, etiology, and pathology.

Mitochondrial diseases

Mitochondrial diseases in childhood: a clinical approach to investigation and management.

Mitochondrial donation: from test tube to clinic

Mitochondrial myopathies in adults and children: management and therapy development.

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

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Multi-system neurological disease is common in patients with OPA1 mutations

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

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

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