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Mitochondrion
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August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease
Manoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.
Journal of Medical Genetics
|
November 28, 2019
Cardiac valve involvement in <i>ADAR</i>-related type I interferonopathy
Yanick Crow, Nandaki Keshavan, Jacques Patrick Barbet, et al.
Journal of Inherited Metabolic Disease
|
May 11, 2022
Research priorities for mitochondrial disorders: Current landscape and patient and professional views
Rhys H Thomas, Amy Hunter, Lyndsey Butterworth, et al.
American Journal of Human Genetics
|
April 21, 2009
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
Andrew J Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, et al.
Nature Communications
|
July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Nature Communications
|
April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Orphanet Journal of Rare Diseases
|
December 5, 2013
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
Sacha Ferdinandusse, Hans R Waterham, Simon J R Heales, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 31, 2012
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations
Robert D S Pitceathly, Susan E Tomlinson, Iain Hargreaves, et al.
Plos One
|
January 7, 2016
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease
Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, et al.
Page
of 19
Search research articles
Search
Showing results (111-120 of 182) with videos related to
Sort By:
Page
of 19
Mitochondrion
|
August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease
Manoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.
Journal of Medical Genetics
|
November 28, 2019
Cardiac valve involvement in <i>ADAR</i>-related type I interferonopathy
Yanick Crow, Nandaki Keshavan, Jacques Patrick Barbet, et al.
Journal of Inherited Metabolic Disease
|
May 11, 2022
Research priorities for mitochondrial disorders: Current landscape and patient and professional views
Rhys H Thomas, Amy Hunter, Lyndsey Butterworth, et al.
American Journal of Human Genetics
|
April 21, 2009
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
Andrew J Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, et al.
Nature Communications
|
July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Nature Communications
|
April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Orphanet Journal of Rare Diseases
|
December 5, 2013
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
Sacha Ferdinandusse, Hans R Waterham, Simon J R Heales, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 31, 2012
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations
Robert D S Pitceathly, Susan E Tomlinson, Iain Hargreaves, et al.
Plos One
|
January 7, 2016
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease
Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, et al.
Page
of 19