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Author Details

Robert McFarland
Newcastle University
2002
215
54
PMIDPaper TitleJournal TitlePublished Year
37924258De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.Genet Med2024
36305855Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
37562887Mitochondrial encephalomyopathy.Handb Clin Neurol2023
37516995Neuromuscular disease genetics in under-represented populations: increasing data diversity.Brain2023
37259148Astrocytic pathology in Alpers' syndrome.Acta Neuropathol Commun2023
37013609Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.EMBO Mol Med2023
37272928Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
34716721Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.Ann Neurol2022
35428733l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review.Neurology2022
35790454Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome.Neuropathol Appl Neurobiol2022
35394429PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genet Med2022
36341169Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo <i>CTBP1</i> variant.JIMD Rep2022
36199067Correction: 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.Trials2022
36127727Acipimox 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.Trials2022
36055214Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.Am J Hum Genet2022
35914810Novel &amp;lt;i&amp;gt;DNM1L&amp;lt;/i&amp;gt; variants impair mitochondrial dynamics through divergent mechanisms.Life Sci Alliance2022
35190464COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study.Neurology2022
35317023Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.Adv Genet (Hoboken)2022
35245498Continuum dynamics and statistical correction of compositional heterogeneity in multivalent IDP oligomers resolved by single-particle EM.J Mol Biol2022
34999780Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.Brain2022
34873722Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.J Inherit Metab Dis2022
34927673Forecasting stroke-like episodes and outcomes in mitochondrial disease.Brain2022
35321494Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.HGG Adv2022
33159463Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".J Inherit Metab Dis2021
33513266The molecular pathology of pathogenic mitochondrial tRNA variants.FEBS Lett2021
33646563Current and Emerging Clinical Treatment in Mitochondrial Disease.Mol Diagn Ther2021
33842062Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study.Neurol Clin Pract2021
348731762-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.Nat Commun2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34400813PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genet Med2021
34768885The Effect of tRNA<sup>[Ser]Sec</sup> Isopentenylation on Selenoprotein Expression.Int J Mol Sci2021
34161705Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.N Engl J Med2021
34272727Toning up but powering down: does mitochondrial dysfunction lead to loss of ambulation in cerebral palsy?Dev Med Child Neurol2021
34146515Mitochondrial disease in adults: recent advances and future promise.Lancet Neurol2021
31021000Recent advances in understanding the molecular genetic basis of mitochondrial disease.J Inherit Metab Dis2020
32030781Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.J Inherit Metab Dis2020
31866046Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Am J Hum Genet2020
32005493A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.Neuromuscul Disord2020
33162331The genetic basis of isolated mitochondrial complex II deficiency.Mol Genet Metab2020
33134083<i>SURF1</i> related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.Mol Genet Metab Rep2020
32943091Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.Genome Biol2020
32969598Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.EMBO Mol Med2020
32685350Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletion.JIMD Rep2020
32684384A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.Neuromuscul Disord2020
32969525Lower urinary tract dysfunction in adult patients with mitochondrial disease.Neurourol Urodyn2020
32671231Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses.Wellcome Open Res2020
32522371The m.15043G &gt; A MT-CYB variant is not a pathogenic mtDNA variant.J Neurol Sci2020
31527857Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.Eur J Hum Genet2020
30337492Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?Arch Dis Child2019
32090171Consensus-based statements for the management of mitochondrial stroke-like episodes.Wellcome Open Res2019
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Collaborators

Newcastle upon Tyne Hospitals NHS Foundation Trust
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King's College London
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University of Cambridge
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Massachusetts General Hospital for Children
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Children's Hospital of Philadelphia
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IRCCS Bambino Gesu Children's Research Hospital
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