Staff Profile

My research is dedicated to advancing the understanding of natural history, outcome measures, and clinical trial endpoints in hereditary ataxia and primary mitochondrial diseases.

• Articles

  • Ulrick N, Goldstein A, Simons C, Taft RJ, Heiman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CDM, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tetreault M, Majewski J, Bernard G, Ng YS, McFarland R, Vanderver A, Care4Rare Canada Consortium. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Pediatric Neurology 2017, 66, 59-62.
  • Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Scientific Reports 2016, 6, 30610.
  • Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houstek J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvilova H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Ostergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. Journal of Medical Genetics 2016, 53(11), 768-775.
  • Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. European Heart Journal 2016, 37(32), 2552-2559.
  • Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Molecular Genetics and Metabolism 2016, 118(3), 178-184.
  • Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Annals of Neurology 2016, 80(5), 686-692.
  • Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurology Genetics 2016, 2(4), e82.
  • Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. Journal of Neurology 2016, 263(1), 179-191.
  • Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Whittaker RG, Ng Y, Cunningham MO, Turnbull DM. Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease. Neuropathology and Applied Neurobiology 2016, 42(2), 180-193.
  • Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurology 2016, 73(6), 668-674.
  • Ng YS, Hardy SA, Shrier V, Quaghebeur G, Mole DR, Daniels MJ, Downes SM, Freebody J, Fratter C, Hofer M, Nemeth AH, Poulton J, Taylor RW. Clinical features of the pathogenic m.5540G > A mitochondrial transfer RNA tryptophan gene mutation. Neuromuscular Disorders 2016, 26(10), 702-705.
  • Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Annals of Neurology 2015, 77(5), 753-759.
  • Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM. Epilepsy in Adults With Mitochondrial Disease: A Cohort Study. Annals of Neurology 2015, 78(6), 949-957.

• Conference Proceedings (inc. Abstracts)

  • Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BH, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. In: Mitochondria Research Society/United Mitochondrial Disease Foundation Meeting. 2016, Seattle: Elsevier BV.
  • Shaw S, Ng YS, Whittaker R, McFarland R, Turnbull D, Gorman G, Schaefer A. A clinical audit of acute management of stroke-like episodes from a national mitochondrial disease centre. In: 2015 ABN Annual Meeting. 2015, London, UK: BMJ Group.
  • Ng YS, Lax N, Schaefer A, Radunovic A, Ralph M, Alhakim A, Taylor R, Turnbull D, McFarland R, Gorman G. Sudden Unexpected Death in Adults with M.3243A>G Mutation. In: Association of British Neurologists Annual Meeting. 2014, Cardiff, UK: BMJ Publishing Group.
  • Ng Y, Alston C, Horvath R, Farrugia M, Chinnery P, Turnbull D, Taylor R, McFarland R, Schaefer A, Gorman G. A genetic weakness - Phoenician legacy or Celtic heritage?. In: Association of British Neurologists Annual Meeting. 2014, Cardiff: BMJ Publishing Group.

• Editorials

  • Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao CY, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J. The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology 2016, 86(20), 1921-1923.
  • Ng YS, Lim M, Thomas G, McFarland R. Teaching NeuroImages: Neuroradiologic evolution of Leigh disease. Neurology 2016, 87(14), e159-e160.

• Letters

  • Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Mitochondrial donation - Which women could benefit?. New England Journal of Medicine 2019, 380(20), 1971-1972.
  • Whittaker RG, Gorman G, Ng Y, Turnbull DM. Prevalence and Outcome of Mitochondrial Epilepsy Reply. Annals of Neurology 2016, 80(2), 314-314.
  • Ng YS, Gorman GS, Turnbull DM, Martikainen MH. The diagnosis of posterior reversible encephalopathy syndrome. Lancet Neurology 2015, 14(11), 1073-1073.
  • Gorman GS, Grady JP, Ng Y, Schaefer AM, McNally RJ, Chinnery PF, Man PY, Herbert M, Taylor RW, McFarland R, Turnbull DM. Mitochondrial Donation: How Many Women Could Benefit?. New England Journal of Medicine 2015, 372(9), 885-887.

• Note

  • Ng YS, Turnbull DM. Uncoupling of energy production. Cell Metabolism 2022, 34(12), 1901-1903.

• Review

  • Anagnostou ME, Ng YS, Taylor RW, McFarland R. Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review. Epilepsia 2016, 57(10), 1531-1545.