R. Mcfarland

发表

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

Robert W. Taylor, F. H. van der Westhuizen, A. Peet, 2012, Journal of Medical Genetics.

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

Robert W. Taylor, P. Chinnery, G. Falkous, 2017, Neurology: Genetics.

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

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015, Journal of neuropathology and experimental neurology.

Recent advances in understanding the molecular genetic basis of mitochondrial disease

Robert W. Taylor, C. Alston, R. Mcfarland, 2019, Journal of inherited metabolic disease.

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

Robert W. Taylor, D. Turnbull, N. Howell, 2004, Trends in genetics : TIG.

Childhood neurological presentation of a novel mitochondrial tRNAVal gene mutation

Robert W. Taylor, D. Turnbull, F. Wojnarowska, 2004, Journal of the Neurological Sciences.

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

Robert W. Taylor, E. Bertini, R. Carrozzo, 2016, Journal of Inherited Metabolic Disease.

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Marni J. Falk, Ryan L. Davis, E. Bertini, 2019, Journal of Medical Genetics.

Prevalence and progression of diabetes in mitochondrial disease

M. Walker, D. Turnbull, R. Whittaker, 2007, Diabetologia.

Cerebral folate deficiency--mishaps and misdirection.

R. Mcfarland, 2012, Brain : a journal of neurology.

Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses

D. Turnbull, L. Errington, C. Jimenez-Moreno, 2020, Wellcome open research.

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

Robert W. Taylor, D. Turnbull, H. Prokisch, 2017, JAMA neurology.

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

Robert W. Taylor, J. Bourke, D. Turnbull, 2013, International journal of cardiology.

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

Robert W. Taylor, J. Elson, R. Mcfarland, 2012, Mitochondrion.

Prevalence and severity of voice and swallowing difficulties in mitochondrial disease.

Robert W. Taylor, D. Turnbull, R. Whittaker, 2012, International journal of language & communication disorders.

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Robert W. Taylor, S. Dimauro, S. Marie, 2009, Brain : a journal of neurology.

Depressive behaviour in children diagnosed with a mitochondrial disorder.

E. Morava, R. Rodenburg, C. Verhaak, 2010, Mitochondrion.

Clinical Diagnosis of Oxidative Phosphorylation Disorders

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004 .

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase &ggr; (POLG1)

V. Ramesh, P. Chinnery, G. Hudson, 2009, BMJ Case Reports.

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

G. Uziel, J. Elson, J. Smeitink, 2006, Neuromuscular Disorders.

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

D. Turnbull, P. Chinnery, J. Elson, 2006, Neurology.

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

Q. Kong, D. Wallace, A. Salas, 2012, Human mutation.

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

Robert W. Taylor, S. Rahman, S. Santra, 2016, Journal of pediatric gastroenterology and nutrition.

Mitochondrial disease in adults: recent advances and future promise

Robert W. Taylor, D. Turnbull, M. Mancuso, 2021, The Lancet Neurology.

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019

J. Steffann, J. Poulton, R. Mcfarland, 2019, Neuromuscular Disorders.

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

Robert W. Taylor, N. Lax, D. Turnbull, 2018, Brain pathology.

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

Robert W. Taylor, M. Simpson, P. Bonnen, 2016, Journal of Inherited Metabolic Disease.

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

Robert W. Taylor, D. Turnbull, J. Coxhead, 2014, Brain : a journal of neurology.

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

Robert W. Taylor, D. Turnbull, A. Blamire, 2012, Neuromuscular Disorders.

Mitochondrial disease in pregnancy: a systematic review

D. Turnbull, R. Whittaker, R. Mcfarland, 2011, Obstetric medicine.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

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

S. Pal, M. Kurian, E. Wassmer, 2018, Archives of Disease in Childhood.

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

R. Will, C. Verity, R. Mcfarland, 2009, Developmental medicine and child neurology.

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus

M. Mancuso, S. Rahman, M. O'Callaghan, 2020, Journal of inherited metabolic disease.

Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome

D. Erskine, N. Lax, L. Smith, 2022, Neuropathology and applied neurobiology.

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2015, JAMA neurology.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

Robert W. Taylor, S. Dimauro, D. Turnbull, 2006 .

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

Robert W. Taylor, D. Turnbull, I. Hargreaves, 2017, Scientific Reports.

Mitochondrial donation: from test tube to clinic

D. Turnbull, G. Gorman, R. Mcfarland, 2018, The Lancet.

Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy

L. Rochester, L. Alcock, S. Del Din, 2022, Trials.

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

S. Rahman, E. Brodtkorb, L. Bindoff, 2017, Journal of Inherited Metabolic Disease.

Crowd-Sourced Spectroscopy of Long Period Mira-Type Variables

M. Templeton, R. Mcfarland, John C. Martin, 2016 .

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

Robert W. Taylor, Christopher A. Lavender, T. Kunkel, 2020, Genome Biology.

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms

J. Baptista, M. Widlansky, M. Kurian, 2022, Life Science Alliance.

A. Vanderver, R. Taft, C. V. van Karnebeek, 2017, Pediatric neurology.

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

Robert W. Taylor, H. Lochmüller, R. Horvath, 2019, European Journal of Human Genetics.

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

R. Whittaker, J. Kisler, R. Mcfarland, 2010, Developmental medicine and child neurology.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

The genetic basis of isolated mitochondrial complex II deficiency

Robert W. Taylor, C. Alston, R. Mcfarland, 2020, Molecular genetics and metabolism.

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

Robert W. Taylor, E. Crushell, P. Morrison, 2012, Developmental medicine and child neurology.

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Robert W. Taylor, D. Turnbull, A. Compton, 2011, European Journal of Human Genetics.

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)

V. Ramesh, P. Chinnery, G. Hudson, 2008, Archives of Disease in Childhood.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

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

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2015, Clinical science.

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008, Brain : a journal of neurology.

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease

D. Erskine, J. Attems, R. Guerreiro, 2022, Brain : a journal of neurology.

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

H. Prokisch, H. Cordell, M. Mancuso, 2022, medRxiv.

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

Robert W. Taylor, N. Lax, D. Turnbull, 2018, EBioMedicine.

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

Robert W. Taylor, E. Larsson, C. Gustafsson, 2019, Nature Communications.

Overview of Approaches to Mitochondrial Disease Therapy

R. Mcfarland, D. Lehmann, 2018 .

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

Robert W. Taylor, R. Mcfarland, Y. Ng, 2016, Epilepsia.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

D. Turnbull, P. Chinnery, G. Hudson, 2008, Journal of Medical Genetics.

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

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

Scientific and Ethical Issues in Mitochondrial Donation

Robert W. Taylor, D. Turnbull, G. Gorman, 2018, The New bioethics : a multidisciplinary journal of biotechnology and the body.

Endovascular repair of iliac artery injury complicating lumbar disc surgery

R. Mcfarland, A. Belli, P. Skippage, 2008, European Spine Journal.

Mitochondrial Donation - Which Women Could Benefit?

Robert W. Taylor, D. Turnbull, I. Wilson, 2019, The New England journal of medicine.

Mitochondrial diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2016, Nature Reviews Disease Primers.

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

Robert W. Taylor, D. Turnbull, M. Martikainen, 2019, Annals of neurology.

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

Robert W. Taylor, H. Smeets, C. D. de Die-Smulders, 2016, Journal of Medical Genetics.

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

Robert W. Taylor, D. Turnbull, H. Cordell, 2018, Annals of clinical and translational neurology.

A national perspective on prenatal testing for mitochondrial disease

Robert W. Taylor, D. Turnbull, J. Poulton, 2014, European Journal of Human Genetics.

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

Beril Talim, Patrick F Chinnery, Robert W Taylor, 2014, JAMA.

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

B. Galna, D. Turnbull, L. Rochester, 2013, Journal of Neurology.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Current and Emerging Clinical Treatment in Mitochondrial Disease

R. Mcfarland, R. Stefanetti, R. Tinker, 2021, Molecular Diagnosis & Therapy.

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

Robert W. Taylor, D. Turnbull, U. Pohl, 2012, Brain : a journal of neurology.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Robert W. Taylor, E. Haan, Pedro Rebelo-Guiomar, 2018, bioRxiv.

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

M. Tarnopolsky, C. Wusthoff, J. Christodoulou, 2016, Molecular genetics and metabolism.

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

Robert W. Taylor, H. Prokisch, P. Clayton, 2016, Journal of Medical Genetics.

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

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

Robert W. Taylor, M. Santibanez-Koref, P. Chinnery, 2014, PLoS genetics.

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

Robert W. Taylor, W. Craigen, P. Bonnen, 2013, American journal of human genetics.

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

Martin Picard, Grainne S. Gorman, Robert W. Taylor, 2016, Scientific Reports.

Nuclear genetic disorders of mitochondrial DNA gene expression

Robert W. Taylor, R. Mcfarland, T. Nicholls, 2020 .

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

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

Robert W. Taylor, D. Turnbull, E. Wassmer, 2021, Annals of neurology.

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

Robert W. Taylor, H. Prokisch, M. Simpson, 2015, Brain : a journal of neurology.

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

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

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

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

Kunji ERS, Taylor RW. Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016 .

Recurrent De Novo Dominant Mutations in SLC 2 SA 4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy

Robert W. Taylor, M. Simpson, R. Rodenburg, 2022 .

Journal Pre-proof Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease.

M. Jackson, D. Turnbull, C. Lamb, 2022 .

Phase II Feasibility Study of the Efficacy, Tolerability, and Impact on the Gut Microbiome of a Low-Residue (Fiber) Diet in Adult Patients With Mitochondrial Disease

M. Jackson, D. Turnbull, C. Lamb, 2022, Gastro Hep Advances.

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

Robert W. Taylor, Christopher A. Lavender, T. Kunkel, 2020, Genome biology.

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

Robert W. Taylor, S. Lalani, W. Craigen, 2015, Cell metabolism.

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

Robert W. Taylor, H. Prokisch, H. Mandel, 2018, Human mutation.

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2015, Annals of neurology.

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

Robert W. Taylor, B. Moore, P. Chinnery, 2016, Brain : a journal of neurology.

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

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

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

Robert W. Taylor, Carol J. Saunders, C. Saunders, 2018, Human molecular genetics.

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

Robert W. Taylor, M. O'sullivan, C. McMahon, 2015, Human Genetics.

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

Robert W. Taylor, E. Larsson, C. Gustafsson, 2019, Nature Communications.

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency

Robert W. Taylor, H. Prokisch, R. Mcfarland, 2021, Journal of inherited metabolic disease.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Robert W. Taylor, N. Lax, P. Bonnen, 2018, EMBO molecular medicine.

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

Robert W. Taylor, P. Bonnen, V. Appadurai, 2018, Human mutation.

The neurology of mitochondrial DNA disease

Robert W. Taylor, D. Turnbull, R. Mcfarland, 2002, The Lancet Neurology.

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2002, Nature Genetics.

Mutations of the mitochondrial ND1 gene as a cause of MELAS

D. Turnbull, A. Ohtake, M. Ryan, 2004, Journal of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Robert W. Taylor, D. Fisk, R. Weintraub, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

Causes of Death in Adults with Mitochondrial Disease.

D. Turnbull, E. Morava, R. Mcfarland, 2015, JIMD reports.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License Perceived Fatigue Is Highly Prevalent and Debilitating in Patients with Mitochondrial Disease

D. Turnbull, J. Elson, J. Newton, 2022 .

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

Robert W. Taylor, B. Galna, D. Turnbull, 2015, Journal of neuromuscular diseases.

SURF1 deficiency: a multi-centre natural history study

Robert W. Taylor, E. Aasheim, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

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

Robert W. Taylor, H. Smeets, P. Bonnen, 2019, Annals of clinical and translational neurology.

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

Robert W. Taylor, D. Turnbull, C. Alston, 2013, Journal of Neurological Sciences.

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

D. Turnbull, R. Mcfarland, R. Taylor, 2007, Current topics in developmental biology.

Outcomes of Endovascular Abdominal Aortic Aneurysm Repair in Patients with Hostile Neck Anatomy

Robert Morgan, Matthew J. Thompson, E. Choke, 2006, CardioVascular and Interventional Radiology.

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

Robert W. Taylor, H. Lochmüller, G. Falkous, 2020, Neuromuscular Disorders.

Prevalence of mitochondrial DNA disease in adults

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008, Annals of neurology.

Mitochondrial tRNA mutations and disease

Robert W Taylor, Robert W. Taylor, J. Elson, 2010, Wiley interdisciplinary reviews. RNA.

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

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Detection of pathogenic splicing events from RNA-sequencing data using dasper

Robert W. Taylor, F. Muntoni, M. Ryten, 2021, bioRxiv.

The molecular pathology of pathogenic mitochondrial tRNA variants

Robert W. Taylor, R. Mcfarland, Uwe Richter, 2021, FEBS letters.

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

Robert W. Taylor, D. Turnbull, R. Petty, 2007, Journal of Neurology.

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

Robert W. Taylor, J. Casey, A. Vanderver, 2016, Journal of Medical Genetics.

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

Robert W. Taylor, D. Milford, N. Ragge, 2016, BMC Research Notes.

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

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

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

Holger Prokisch, Robert W. Taylor, Langping He, 2019, American journal of human genetics.

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

Robert W. Taylor, Courtney E. French, A. Pagnamenta, 2018, American journal of human genetics.

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

Robert W. Taylor, H. Prokisch, M. Simpson, 2017, neurogenetics.

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

Robert W. Taylor, J. Kemp, P. Chinnery, 2010, Brain : a journal of neurology.

Epilepsy in adults with mitochondrial disease: A cohort study

Robert W. Taylor, N. Lax, D. Turnbull, 2015, Annals of neurology.

Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert W. Taylor, D. Turnbull, U. Pohl, 2012 .

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

Robert W. Taylor, D. Turnbull, R. McNally, 2013, Brain : a journal of neurology.

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Robert W. Taylor, L. Schöls, M. Koenig, 2021, The New England journal of medicine.

The surgery of aortic valve disease in neonates, infants and children.

R. Mcfarland, M. Paneth, I. Lane, 1982, The Journal of cardiovascular surgery.

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

Robert W. Taylor, I. Bodi, R. Hadden, 2012, Neuromuscular Disorders.

A neurological perspective on mitochondrial disease

Robert W. Taylor, D. Turnbull, R. Mcfarland, 2010, The Lancet Neurology.

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

Robert W. Taylor, J. Elson, C. Alston, 2011, Human mutation.

The genotypic and phenotypic spectrum of MTO1 deficiency

Robert W. Taylor, C. Ross, W. Wasserman, 2018, Molecular genetics and metabolism.

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

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015 .

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

Marni J. Falk, Kathryn M. Camp, L. Wolfe, 2016, Molecular genetics and metabolism.

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

Robert W. Taylor, D. Turnbull, R. McNally, 2018, EMBO molecular medicine.

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

Colin A. Johnson, E. R. Baumgartner, T. Meitinger, 2016, American journal of human genetics.

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

V. Mootha, D. Turnbull, M. Zeviani, 2013, Nature Reviews Neurology.

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

Robert W. Taylor, R. Kirk, A. Hasan, 2012, International journal of cardiology.

Forecasting stroke-like episodes and outcomes in mitochondrial disease

Robert W. Taylor, D. Erskine, N. Lax, 2021, Brain : a journal of neurology.

2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

Iain G. Johnston, Robert W. Taylor, I. Johnston, 2021, Nature Communications.

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

D. Turnbull, J. Fletcher, A. Ohtake, 2004, Annals of neurology.

Hair and thread constriction of the digits in infants. A case report.

R. Mcfarland, M. F. Abel, 1993, The Journal of bone and joint surgery. American volume.

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

Robert W. Taylor, D. Turnbull, R. Horvath, 2010, Molecular genetics and metabolism.

Batteries not included: diagnosis and management of mitochondrial disease

D. Turnbull, D. Turnbull, R. Mcfarland, 2009, Journal of internal medicine.

Resolving complexity in mitochondrial disease: Towards precision medicine.

Robert W. Taylor, R. Mcfarland, A. Lim, 2019, Molecular genetics and metabolism.

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

Robert W. Taylor, D. Turnbull, A. Schaefer, 2017, The Journal of clinical endocrinology and metabolism.

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

E. Bertini, S. Rahman, S. Parikh, 2018, Journal of Inherited Metabolic Disease.

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

Robert W. Taylor, D. Turnbull, Y. Yiannakou, 2016, Annals of neurology.

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

Robert W. Taylor, D. Turnbull, S. Rahman, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

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

D. Turnbull, P. Chinnery, R. Whittaker, 2009, Neurology.

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

Robert W. Taylor, A. Torkamani, E. Ruiz-Pesini, 2018, Human molecular genetics.

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

Robert W. Taylor, S. Mansour, G. Saretzki, 2010, Brain : a journal of neurology.

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

D. Turnbull, M. Martikainen, M. Mancuso, 2019, Wellcome open research.

Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study

Robert W. Taylor, N. Lax, D. Turnbull, 2012, Journal of neuropathology and experimental neurology.

The diagnosis of mitochondrial muscle disease

Robert W. Taylor, D. Turnbull, M. Barron, 2004, Neuromuscular Disorders.

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

Robert W. Taylor, I. Simonic, S. Mehta, 2014, Biochimica et biophysica acta.

Visceral and Renal Artery Complications of Suprarenal Fixation during Endovascular Aneurysm Repair

Matthew J. Thompson, E. Choke, I. Loftus, 2007, CardioVascular and Interventional Radiology.

Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects

Daniel M. Jones, J. Bourke, D. Turnbull, 2021, Open Heart.

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

Robert W. Taylor, J. Bourke, N. Lax, 2015, European heart journal.

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

D. Turnbull, R. Whittaker, R. Mcfarland, 2008, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes

L. Errington, G. Gorman, R. Mcfarland, 2022, Neurology.

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

Robert W. Taylor, D. Turnbull, J. Lindon, 2015, Kidney international.

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

Robert W. Taylor, H. Prokisch, R. Lightowlers, 2014, European Journal of Human Genetics.

International Paediatric Mitochondrial Disease Scale

Marni J. Falk, V. Wong, J. Hendriks, 2016, Journal of Inherited Metabolic Disease.

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

J. Elson, R. Wevers, S. Wortmann, 2011, Journal of Inherited Metabolic Disease.

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

H. Devine, R. Mcfarland, A. Blain, 2019, BJOG : an international journal of obstetrics and gynaecology.

Homoplasmy, heteroplasmy, and mitochondrial dystonia

P. Dorman, D. Turnbull, V. Ramesh, 2007, Neurology.

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

Robert W. Taylor, R. Weleber, R. Wibom, 2012, European Journal of Human Genetics.

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue

Robert W. Taylor, R. Weleber, R. Wibom, 2012 .

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004, Neuromuscular Disorders.

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

Robert W. Taylor, E. Lamantea, I. Wittig, 2020, EMBO molecular medicine.

Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation

Robert W. Taylor, M. Walker, D. Turnbull, 2004, Annals of neurology.

Robert W. Taylor, Ogun Adebali, C. Eraslan, 2020, Molecular genetics and metabolism reports.

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

C. Toro, C. Gustafsson, L. Wolfe, 2023, EMBO molecular medicine.

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

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..

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

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

J. Christodoulou, S. Rahman, F. Scaglia, 2021, Advanced genetics.

Maternally inherited mitochondrial DNA disease in consanguineous families

Robert W. Taylor, D. Turnbull, I. Hughes, 2011, European Journal of Human Genetics.

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

Robert W. Taylor, D. Turnbull, V. Ramesh, 2018, Epilepsia open.

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

R. Pitceathly, R. Mcfarland, 2014, Current opinion in neurology.

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

Robert W. Taylor, D. Turnbull, A. Schaefer, 2019, Annals of clinical and translational neurology.

The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression

Robert W. Taylor, Tsutomu Suzuki, M. Helm, 2021, International journal of molecular sciences.

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004, European Journal of Human Genetics.

A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy

Robert W. Taylor, D. Turnbull, A. Schaefer, 2002, Neuromuscular Disorders.

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

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

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

E. McColl, R. Whittaker, J. Elson, 2013, Neuromuscular Disorders.

Neuromuscular disease presentation with three genetic defects involving two genomes

Robert W. Taylor, D. Turnbull, J. Goodship, 2009, Neuromuscular Disorders.

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

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2008, Nucleic acids research.

P80 The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK

M. Hanna, J. Poulton, R. Pitceathly, 2011, Neuromuscular Disorders.

P. Machado, M. Hanna, R. Pitceathly, 2022, Neurology.

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

S. Mehta, A. Rötig, C. Bönnemann, 2022, HGG advances.

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

Robert W. Taylor, A. Norman, R. Mcfarland, 2019, Neuromuscular Disorders.

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Joanna Poulton, Robert W Taylor, Robert W. Taylor, 2013, Human mutation.

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

Robert W. Taylor, D. Turnbull, M. Martikainen, 2016, JAMA neurology.

Pathogenic mitochondrial tRNA mutations – Which mutations are inherited and why?

D. Turnbull, J. Elson, R. Mcfarland, 2009, Human mutation.

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

Robert W. Taylor, A. Bender, R. Horvath, 2010, Neuromuscular Disorders.

Comment on “A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome”

M. Mancuso, S. Rahman, L. Bindoff, 2020, Journal of inherited metabolic disease.

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Robert W. Taylor, D. Turnbull, R. Haller, 2018, Annals of neurology.

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

Robert W. Taylor, R. Weleber, R. Wibom, 2012, European Journal of Human Genetics.

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene

D. Turnbull, A. Schaefer, R. Petty, 2004, Neurology.

Phenotypic spectrum of m.3243A>G mitochondrial DNA mutation in children

R. Mcfarland, V. Nesbitt, 2011, Archives of Disease in Childhood.

Model systems informing mechanisms and drug discovery: a systematic review of POLG-related disease models

N. Lax, L. Errington, G. Gorman, 2023, Wellcome Open Research.

Astrocytic pathology in Alpers’ syndrome

D. Erskine, N. Lax, R. Mcfarland, 2023, Acta Neuropathologica Communications.

Neuromuscular Junction Abnormalities in Mitochondrial Disease

Robert W. Taylor, D. Turnbull, R. Whittaker, 2019, Neurology. Clinical practice.

Neuromuscular Junction Abnormalities in Mitochondrial Disease AnObservational Cohort Study

Robert W. Taylor, D. Turnbull, R. Whittaker, 2022 .

Clinical Reasoning: Blurred vision and dancing feet

D. Turnbull, G. Gorman, D. Turnbull, 2009, Neurology.

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

Robert W. Taylor, D. Turnbull, K. Bushby, 2008, Neuromuscular Disorders.

Diabetes and Deafness

Robert W. Taylor, D. Turnbull, R. Whittaker, 2007, Diabetes Care.

mtDNA disease for the neurologist

Robert W. Taylor, D. Turnbull, R. Whittaker, 2011 .

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008 .

Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008 .

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

N. Graf, S. Balasubramaniam, D. Thorburn, 2022, JIMD reports.

Lower urinary tract dysfunction in adult patients with mitochondrial disease

D. Turnbull, G. Gorman, A. Sachdeva, 2020, Neurourology and urodynamics.

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

Robert W. Taylor, G. Gorman, I. Hargreaves, 2020, JIMD reports.

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

Robert W. Taylor, G. Falkous, R. Mcfarland, 2019, Mitochondrion.

Mitochondrial disease is a common cause of severe cardiomyopathy in children

R. Kirk, R. Mcfarland, M. Bates, 2011, Archives of Disease in Childhood.

Decreased male reproductive success in association with mitochondrial dysfunction

Robert W. Taylor, D. Turnbull, M. Martikainen, 2017, European Journal of Human Genetics.

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

S. Dimauro, R. Carrozzo, M. Zeviani, 2007, Journal of Medical Genetics.

Mitochondrial Diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2012, Journal of epilepsy research.

Unilateral Horner's syndrome: An unusual childhood presentation

A. Gholkar, R. Mcfarland, M. Dasarathi, 2010, Journal of paediatrics and child health.

The genotypic and phenotypic spectrum of MTO1 deficiency

C. Ross, W. Wasserman, H. Prokisch, 2018, Molecular genetics and metabolism.

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

T. Cope, R. Mcfarland, Andrew Schaefer, 2011, Mitochondrion.

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Marni J. Falk, H. Prokisch, A. Rötig, 2023, Neuromuscular Disorders.

Neuromuscular disease genetics in under-represented populations: increasing data diversity

K. Thangaraj, P. Chinnery, S. Efthymiou, 2023, Brain : a journal of neurology.

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

H. Prokisch, P. Clayton, I. Knerr, 2016, Journal of Medical Genetics.

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

D. Turnbull, A. Schaefer, T. Cheetham, 2018, The Journal of clinical endocrinology and metabolism.

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

J. Elson, C. Alston, R. Mcfarland, 2011, Human mutation.

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

D. Turnbull, M. Martikainen, D. Burn, 2016, JAMA neurology.

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

Marni J. Falk, Kathryn M. Camp, J. Vockley, 2016, Molecular genetics and metabolism.

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

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Neurovascular Complications Resulting From Corticosteroid Injections.

P. Gerbino, R. Mcfarland, T. Dugdale, 1990, The Physician and sportsmedicine.

Cerebral folate deficiency--mishaps and misdirection.

R. Mcfarland, 2012, Brain : a journal of neurology.

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

B. Moore, P. Chinnery, P. Yu-Wai-Man, 2016, Brain : a journal of neurology.

Preimplantation genetic diagnosis for mitochondrial DNA disease

S. Byerley, C. Alston, R. Mcfarland, 2014 .