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Author Details

Yi Shiau Ng
Newcastle upon Tyne Hospitals NHS Foundation Trust
2015
58
22
PMIDPaper TitleJournal TitlePublished Year
37567761Leigh syndrome: an adult presentation of a paediatric disease.Pract Neurol2024
36813321Stroke-like episodes in adult mitochondrial disease.Handb Clin Neurol2023
37562887Mitochondrial encephalomyopathy.Handb Clin Neurol2023
37652671T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.Life Sci Alliance2023
37872380A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.Commun Biol2023
37298649Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.Int J Mol Sci2023
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
35393351Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder.Open Heart2022
35552684Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocr Rev2022
36476932Uncoupling of energy production.Cell Metab2022
34927673Forecasting stroke-like episodes and outcomes in mitochondrial disease.Brain2022
33159463Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".J Inherit Metab Dis2021
33842062Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study.Neurol Clin Pract2021
34325999A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.Neuromuscul Disord2021
34146515Mitochondrial disease in adults: recent advances and future promise.Lancet Neurol2021
34169319Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.Hum Mol Genet2021
32158465Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.Front Genet2020
32030781Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.J Inherit Metab Dis2020
31781911Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.Acta Neuropathol2020
32858900The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes.Life (Basel)2020
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
32680831When to think about mitochondrial disease.Pract Neurol2020
32646480Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies.Acta Neuropathol Commun2020
32671231Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses.Wellcome Open Res2020
30423112Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.J Clin Endocrinol Metab2019
32090171Consensus-based statements for the management of mitochondrial stroke-like episodes.Wellcome Open Res2019
31187502Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.Ann Neurol2019
31091381Mitochondrial Donation - Which Women Could Benefit?N Engl J Med2019
31167410A Novel Pathogenic Variant in <i>MT-CO2</i> Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.J Clin Med2019
30911575Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.Ann Clin Transl Neurol2019
29283441Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.Ann Neurol2018
29588995The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset <i>POLG</i>-related mitochondrial disease.Epilepsia Open2018
29735722mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A&gt;G mitochondrial disease.EMBO Mol Med2018
29560378Phenotypic heterogeneity in m.3243A&gt;G mitochondrial disease: The role of nuclear factors.Ann Clin Transl Neurol2018
29506874MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.EBioMedicine2018
27843092RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.Pediatr Neurol2017
28395030Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.JAMA Neurol2017
28812649Decreased male reproductive success in association with mitochondrial dysfunction.Eur J Hum Genet2017
28815208Novel <i>POLG</i> variants associated with late-onset de novo status epilepticus and progressive ataxia.Neurol Genet2017
25786813Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.Neuropathol Appl Neurobiol2016
26315846Mitochondrial disease: genetics and management.J Neurol2016
27618137Clinical features of the pathogenic m.5540G&gt;A mitochondrial transfer RNA tryptophan gene mutation.Neuromuscul Disord2016
27698158Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.Neurology2016
27536729Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.Neurol Genet2016
27506553The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.Sci Rep2016
27393207Reply.Ann Neurol2016
27453452Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.Ann Neurol2016
27554452Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Epilepsia2016
27412952The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease.J Med Genet2016
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Collaborators

Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 40
Douglass M Turnbull
Newcastle University
Co-authored papers 36
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 34
Robert McFarland
Newcastle University
Co-authored papers 34
Andrew M Schaefer
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 21
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 6
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 5
Andrew A M Morris
Alder Hey Children's NHS Foundation Trust
Co-authored papers 3
Patrick Yu-Wai-Man
University of Cambridge
Co-authored papers 3
Amel Karaa
Massachusetts General Hospital for Children
Co-authored papers 3
Amy Goldstein
Children's Hospital of Philadelphia
Co-authored papers 3
Kyle Thompson
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 2
David R Thorburn
Co-authored papers 2
Helen Mundy
Evelina London Children's Hospital
Co-authored papers 2
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 2
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 1
Nicola K Ragge
Oxford Brookes University
Co-authored papers 1
Irenaeus F M de Coo
Unit Clinical Genomics, Maastricht University
Co-authored papers 1
Alex Laude
Co-authored papers 1
Dmitriy Niyazov
Ochsner Clinic Foundation
Co-authored papers 1
Timothy Feyma
200 University Ave E
Co-authored papers 1
Ronald G Haller
Co-authored papers 1
M Wainwright
Seattle Children's Hospital, University of Washington
Co-authored papers 1
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 1
Annette Feigenbaum
Rady Children's Hospital and The University of California
Co-authored papers 1
Russell P Saneto
4Center for Integrated Brain Research, Seattle Children's Hospital
Co-authored papers 1
Richard Haas
University of California
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