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Emma L Blakely

Showing results (1-10 of 95) with videos related to

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Biochimica Et Biophysica Acta|September 19, 2009
Mitochondrial DNA mutations and human diseaseHelen A L Tuppen, Emma L Blakely, Douglass M Turnbull, et al.
Wiley Interdisciplinary Reviews. RNA|September 22, 2011
Mitochondrial tRNA mutations and diseaseJohn W Yarham, Joanna L Elson, Emma L Blakely, et al.
Muscle & Nerve|March 30, 2005
Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosisAndrew M Schaefer, Emma L Blakely, Philip G Griffiths, et al.
Human Mutation|September 1, 2009
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?Joanna L Elson, Helen Swalwell, Emma L Blakely, et al.
Frontiers in Physiology|June 26, 2023
Structural analysis of mitochondrial rRNA gene variants identified in patients with deafnessAntón Vila-Sanjurjo, Natalia Mallo, Joanna L Elson, et al.
Journal of the Neurological Sciences|October 7, 2004
Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutationEmma L Blakely, Joanna Poulton, Michael Pike, et al.
Neuromuscular Disorders : NMD|August 19, 2003
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegiaMarcus Deschauer, Reinhard Kiefer, Emma L Blakely, et al.
Biochemical and Biophysical Research Communications|February 23, 2010
The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cellsJohn K Blackwood, Roger G Whittaker, Emma L Blakely, et al.
International Ophthalmology|April 11, 2013
Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutationAssad Jalil, Hasan Anzar Usmani, Muhammad Irfan Khan, et al.
Neuromuscular Disorders : NMD|April 18, 2012
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscleEmma L Blakely, Anna Butterworth, Robert D M Hadden, et al.
Pageof 10

Showing results (1-10 of 95) with videos related to

Sort By:
Pageof 10
Biochimica Et Biophysica Acta|September 19, 2009
Mitochondrial DNA mutations and human diseaseHelen A L Tuppen, Emma L Blakely, Douglass M Turnbull, et al.
Wiley Interdisciplinary Reviews. RNA|September 22, 2011
Mitochondrial tRNA mutations and diseaseJohn W Yarham, Joanna L Elson, Emma L Blakely, et al.
Muscle & Nerve|March 30, 2005
Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosisAndrew M Schaefer, Emma L Blakely, Philip G Griffiths, et al.
Human Mutation|September 1, 2009
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?Joanna L Elson, Helen Swalwell, Emma L Blakely, et al.
Frontiers in Physiology|June 26, 2023
Structural analysis of mitochondrial rRNA gene variants identified in patients with deafnessAntón Vila-Sanjurjo, Natalia Mallo, Joanna L Elson, et al.
Journal of the Neurological Sciences|October 7, 2004
Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutationEmma L Blakely, Joanna Poulton, Michael Pike, et al.
Neuromuscular Disorders : NMD|August 19, 2003
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegiaMarcus Deschauer, Reinhard Kiefer, Emma L Blakely, et al.
Biochemical and Biophysical Research Communications|February 23, 2010
The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cellsJohn K Blackwood, Roger G Whittaker, Emma L Blakely, et al.
International Ophthalmology|April 11, 2013
Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutationAssad Jalil, Hasan Anzar Usmani, Muhammad Irfan Khan, et al.
Neuromuscular Disorders : NMD|April 18, 2012
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscleEmma L Blakely, Anna Butterworth, Robert D M Hadden, et al.
Pageof 10