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Neurology. Genetics|April 12, 2016
Respiratory chain deficiency in nonmitochondrial diseaseAngela Pyle, Helen J Nightingale, Helen Griffin, 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.Journal of Neurology|September 4, 2014
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencyAndrea Balreira, Veronika Boczonadi, Emanuele Barca, et al.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.American Journal of Human Genetics|May 3, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.The New England Journal of Medicine|July 31, 2024
Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel DiseaseHelen Griffin, Lourdes Ceron-Gutierrez, Nima Gharahdaghi, et al.Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.Plos Genetics|April 1, 2022
Heteroplasmic mitochondrial DNA variants in cardiovascular diseasesClaudia Calabrese, Angela Pyle, Helen Griffin, et al.Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.Pageof 6