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Patrick F Chinnery

Showing results (381-390 of 473) with videos related to

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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.
Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.
Stem Cells (Dayton, Ohio)|November 29, 2019
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryosLaila Noli, Shirin E Khorsandi, Angela Pyle, et al.
Plos Genetics|March 8, 2017
Mutations in mitochondrial DNA causing tubulointerstitial kidney diseaseThomas M Connor, Simon Hoer, Andrew Mallett, et al.
Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.
Cell|February 24, 2023
Cell lineage-specific mitochondrial resilience during mammalian organogenesisStephen P Burr, Florian Klimm, Angelos Glynos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.
Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the <i>C12orf65</i> GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.
Nature Genetics|November 3, 2025
Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancerSonia Boscenco, Jacqueline Tait-Mulder, Minsoo Kim, et al.
Brain : a Journal of Neurology|August 1, 2014
Genetic impact on cognition and brain function in newly diagnosed Parkinson's disease: ICICLE-PD studyCristina Nombela, James B Rowe, Sophie E Winder-Rhodes, et al.
Pageof 48

Showing results (381-390 of 473) with videos related to

Sort By:
Pageof 48
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.
Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.
Stem Cells (Dayton, Ohio)|November 29, 2019
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryosLaila Noli, Shirin E Khorsandi, Angela Pyle, et al.
Plos Genetics|March 8, 2017
Mutations in mitochondrial DNA causing tubulointerstitial kidney diseaseThomas M Connor, Simon Hoer, Andrew Mallett, et al.
Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.
Cell|February 24, 2023
Cell lineage-specific mitochondrial resilience during mammalian organogenesisStephen P Burr, Florian Klimm, Angelos Glynos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.
Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the <i>C12orf65</i> GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.
Nature Genetics|November 3, 2025
Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancerSonia Boscenco, Jacqueline Tait-Mulder, Minsoo Kim, et al.
Brain : a Journal of Neurology|August 1, 2014
Genetic impact on cognition and brain function in newly diagnosed Parkinson's disease: ICICLE-PD studyCristina Nombela, James B Rowe, Sophie E Winder-Rhodes, et al.
Pageof 48