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Emma L Blakely

Showing results (41-50 of 95) with videos related to

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Human Molecular Genetics|July 13, 2013
Mitochondrial DNA deletions in muscle satellite cells: implications for therapiesSally Spendiff, Mojgan Reza, Julie L Murphy, et al.
Journal of Clinical Medicine|June 7, 2019
A Novel Pathogenic Variant in <i>MT-CO2</i> Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar AtaxiaCharlotte M Zierz, Karen Baty, Emma L Blakely, et al.
Journal of Inherited Metabolic Disease|April 26, 2019
Recent advances in understanding the molecular genetic basis of mitochondrial diseaseKyle Thompson, Jack J Collier, Ruth I C Glasgow, et al.
Neuromuscular Disorders : NMD|June 1, 2012
Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathyJulie L Murphy, Thiloka E Ratnaike, Ersong Shang, et al.
Nucleic Acids Research|May 2, 2016
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositisKarolina A Rygiel, Helen A Tuppen, John P Grady, et al.
Archives of Neurology|November 10, 2010
Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidityTim M Young, Emma L Blakely, Helen Swalwell, et al.
European Journal of Human Genetics : EJHG|April 16, 2015
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathyDiana Lehmann, Kathrin Schubert, Pushpa R Joshi, et al.
Neuromuscular Disorders : NMD|July 30, 2021
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicityKaren Baty, Maria E Farrugia, Sila Hopton, et al.
Molecular Genetics and Metabolism|May 18, 2010
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutationHelen A L Tuppen, Janev Fehmi, Birgit Czermin, et al.
Journal of Rare Diseases (Berlin, Germany)|August 11, 2025
Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature deathHannah Gillespie, Yi Shiau Ng, Katrina M Wood, et al.
Pageof 10

Showing results (41-50 of 95) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|July 13, 2013
Mitochondrial DNA deletions in muscle satellite cells: implications for therapiesSally Spendiff, Mojgan Reza, Julie L Murphy, et al.
Journal of Clinical Medicine|June 7, 2019
A Novel Pathogenic Variant in <i>MT-CO2</i> Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar AtaxiaCharlotte M Zierz, Karen Baty, Emma L Blakely, et al.
Journal of Inherited Metabolic Disease|April 26, 2019
Recent advances in understanding the molecular genetic basis of mitochondrial diseaseKyle Thompson, Jack J Collier, Ruth I C Glasgow, et al.
Neuromuscular Disorders : NMD|June 1, 2012
Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathyJulie L Murphy, Thiloka E Ratnaike, Ersong Shang, et al.
Nucleic Acids Research|May 2, 2016
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositisKarolina A Rygiel, Helen A Tuppen, John P Grady, et al.
Archives of Neurology|November 10, 2010
Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidityTim M Young, Emma L Blakely, Helen Swalwell, et al.
European Journal of Human Genetics : EJHG|April 16, 2015
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathyDiana Lehmann, Kathrin Schubert, Pushpa R Joshi, et al.
Neuromuscular Disorders : NMD|July 30, 2021
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicityKaren Baty, Maria E Farrugia, Sila Hopton, et al.
Molecular Genetics and Metabolism|May 18, 2010
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutationHelen A L Tuppen, Janev Fehmi, Birgit Czermin, et al.
Journal of Rare Diseases (Berlin, Germany)|August 11, 2025
Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature deathHannah Gillespie, Yi Shiau Ng, Katrina M Wood, et al.
Pageof 10