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Emma L Blakely

Showing results (71-80 of 95) with videos related to

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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.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
EMBO Molecular Medicine|May 9, 2018
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial diseaseJohn P Grady, Sarah J Pickett, Yi Shiau Ng, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 1, 2011
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Rita Horvath, Birgit Czermin, Sweena Gulati, et al.
Annals of Neurology|December 29, 2017
Pathological mechanisms underlying single large-scale mitochondrial DNA deletionsMariana C Rocha, Hannah S Rosa, John P Grady, et al.
Clinical Science (London, England : 1979)|January 29, 2015
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expressionGrainne S Gorman, Emma L Blakely, Hue-Tran Hornig-Do, et al.
Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Neurology. Genetics|August 19, 2016
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsySteven A Hardy, Emma L Blakely, Andrew I Purvis, 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.
Brain : a Journal of Neurology|September 8, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen A L Tuppen, Vanessa E Hogan, Langping He, et al.
Pageof 10

Showing results (71-80 of 95) with videos related to

Sort By:
Pageof 10
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.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
EMBO Molecular Medicine|May 9, 2018
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial diseaseJohn P Grady, Sarah J Pickett, Yi Shiau Ng, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 1, 2011
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Rita Horvath, Birgit Czermin, Sweena Gulati, et al.
Annals of Neurology|December 29, 2017
Pathological mechanisms underlying single large-scale mitochondrial DNA deletionsMariana C Rocha, Hannah S Rosa, John P Grady, et al.
Clinical Science (London, England : 1979)|January 29, 2015
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expressionGrainne S Gorman, Emma L Blakely, Hue-Tran Hornig-Do, et al.
Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Neurology. Genetics|August 19, 2016
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsySteven A Hardy, Emma L Blakely, Andrew I Purvis, 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.
Brain : a Journal of Neurology|September 8, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen A L Tuppen, Vanessa E Hogan, Langping He, et al.
Pageof 10