C. Alston

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.

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

Robert W. Taylor, R. Rodenburg, J. Smeitink, 2016, BBA clinical.

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.

Clinical , biochemical , and genetic features of four patients with short-chain enoyl-CoA hydratase ( ECHS 1 ) deficiency

Reilly, Robert W. Taylor, S. Ferdinandusse, 2018 .

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

Robert W. Taylor, S. Ferdinandusse, H. Waterham, 2018, American journal of medical genetics. Part A.

Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Authors

McFarland, T. Meitinger, T. Strom, 2016 .

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.

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

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

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.

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

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

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

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

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

Robert W. Taylor, D. Turnbull, C. Lawless, 2019, Nucleic acids research.

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms

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

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

Robert W. Taylor, J. A. Arranz, F. Tort, 2016, Mitochondrion (Amsterdam. Print).

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

Robert W. Taylor, P. Chinnery, P. Yu-Wai-Man, 2013, JAMA 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.

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

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

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

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

Recent Advances in Mitochondrial Disease.

Robert W. Taylor, D. Turnbull, C. Alston, 2017, Annual review of genomics and human genetics.

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

J. Polke, C. Woodward, C. Alston, 2022, European Journal of Human Genetics.

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.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Robert W. Taylor, H. Smeets, M. Zeviani, 2016, Human molecular genetics.

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.

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.

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

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

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.

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

Robert W. Taylor, Aaron R D'Souza, M. Minczuk, 2015, American journal of human genetics.

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

Robert W. Taylor, M. Santibanez-Koref, P. Chinnery, 2014, Genetics in Medicine.

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Robert W. Taylor, P. Chinnery, R. Horvath, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

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

Robert W. Taylor, D. Turnbull, K. J. Krishnan, 2013, Neurology.

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

Robert W. Taylor, P. Chinnery, R. Horvath, 2019, Human molecular genetics.

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 .

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

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

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

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

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

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.

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.

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.

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 the Neurological Sciences.

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.

Robert W. Taylor, M. Westphall, H. Prokisch, 2016, Molecular cell.

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines

Robert W. Taylor, H. Prokisch, G. Hudson, 2021, The Journal of pathology.

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.

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

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

Dysferlin mutations and mitochondrial dysfunction

Robert W. Taylor, D. Turnbull, R. Barresi, 2016, Neuromuscular Disorders.

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.

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

Robert W. Taylor, W. Chung, A. Borczuk, 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.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.

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

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

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

Robert W. Taylor, M. Kornhuber, F. Hanisch, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

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

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

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 .

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.

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

Robert W. Taylor, P. Chinnery, R. Lightowlers, 2015, Journal of neuromuscular diseases.

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.

The genetics and pathology of mitochondrial disease

Robert W Taylor, Robert W. Taylor, N. Lax, 2016, The Journal of pathology.

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

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

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

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

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

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

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

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

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

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.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

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.

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.

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.

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

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

Cystic Leukoencephalopathy due to NDUFV1 mutation—A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria

Robert W. Taylor, C. Alston, G. Vadlamani, 2016, Journal of Pediatric Neurology.

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

Robert W. Taylor, D. Turnbull, B. Chakrabarti, 2014, 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.

Maternally inherited mitochondrial DNA disease in consanguineous families

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

Mitochondrial Protein Inte raction Mapping Identifies Regulators of Respiratory Chain Function Graphical

Robert W. Taylor, M. Westphall, H. Prokisch, 2016 .

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.

Mitochondrial dysfunction in myofibrillar myopathy

Robert W. Taylor, D. Turnbull, R. Barresi, 2016, Neuromuscular Disorders.

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

Robert W. Taylor, R. Horvath, S. Heales, 2010, 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.

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.

Robert W. Taylor, N. Lax, D. Turnbull, 2013, Journal of neuropathology and experimental neurology.

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

Robert W. Taylor, D. Turnbull, J. Lowe, 2010, Journal of the Neurological Sciences.

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.

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

Robert W. Taylor, D. Turnbull, R. Whittaker, 2010, Biochemical and biophysical research communications.

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

Robert W. Taylor, M. Kornhuber, A. Wienke, 2016, Neurology: Genetics.

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

Robert W. Taylor, D. Turnbull, R. Haller, 2012, Neuromuscular Disorders.

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.

Decreased male reproductive success in association with mitochondrial dysfunction

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

PP-41 DETERMINATION OF MUTATION LOADS IN PREIMPLANTATION EMBRYOS TO ASSESS THE EFFECTIVENESS OF PREIMPLANTATION GENETIC DIAGNOSIS (PGD) FOR MITOCHONDRIAL DNA (MTDNA) INHERITED DISORDERS

S. Byerley, M. Herbert, D. Turnbull, 2012 .

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

J. A. Arranz, F. Tort, A. Ribes, 2016, Mitochondrion.

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.

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.

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

A. Basu, V. Ramesh, M. Keogh, 2014, neurogenetics.