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Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.
Annals of Neurology|October 30, 2021
Natural History of Leigh Syndrome: A Study of Disease Burden and ProgressionAlbert Z Lim, Yi Shiau Ng, Alasdair Blain, et al.
Plos One|October 3, 2013
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegiaCynthia Yu-Wai-Man, Fiona E Smith, Michael J Firbank, et al.
Genome Biology|September 18, 2020
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and agingScott A Lujan, Matthew J Longley, Margaret H Humble, et al.
European Heart Journal. Cardiovascular Imaging|November 7, 2012
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriersMatthew G D Bates, Kieren G Hollingsworth, Jane H Newman, et al.
Annals of Neurology|July 26, 2016
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combinationYi Shiau Ng, Catherine Feeney, Andrew M Schaefer, et al.
JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
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