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Neurology|May 4, 2018
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutationBoglarka Bansagi, Vietxuan Phan, Mark R Baker, et al.EMBO Molecular Medicine|May 9, 2018
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial diseaseJohn P Grady, Sarah J Pickett, Yi Shiau Ng, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 1, 2011
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Rita Horvath, Birgit Czermin, Sweena Gulati, et al.Annals of Neurology|December 29, 2017
Pathological mechanisms underlying single large-scale mitochondrial DNA deletionsMariana C Rocha, Hannah S Rosa, John P Grady, et al.Molecular Cell|January 2, 2018
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNAThomas J Nicholls, Cristina A Nadalutti, Elisa Motori, et al.Clinical Science (London, England : 1979)|January 29, 2015
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expressionGrainne S Gorman, Emma L Blakely, Hue-Tran Hornig-Do, et al.Wellcome Open Research|August 16, 2021
A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER ProjectAura Cecilia Jimenez-Moreno, Cathy Anne Pinto, Bennett Levitan, et al.European Heart Journal|July 19, 2015
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsYi Shiau Ng, John P Grady, Nichola Z Lax, et al.Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.Human Molecular Genetics|January 13, 2022
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial diseaseFlorian A Rosenberger, Jia Xin Tang, Kate Sergeant, et al.Pageof 36