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Shamima Rahman

Showing results (111-120 of 182) with videos related to

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Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj 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 interferonopathyYanick 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 viewsRhys 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 diseaseAndrew 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 humansWei 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 CareAnja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei 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 dehydrogenaseSacha 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 mutationsRobert 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 DiseaseSanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, et al.
Pageof 19

Showing results (111-120 of 182) with videos related to

Sort By:
Pageof 19
Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj 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 interferonopathyYanick 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 viewsRhys 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 diseaseAndrew 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 humansWei 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 CareAnja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei 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 dehydrogenaseSacha 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 mutationsRobert 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 DiseaseSanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, et al.
Pageof 19