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Emma L Blakely

Showing results (81-90 of 95) with videos related to

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Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the <i>C12orf65</i> GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.
Human Mutation|May 23, 2013
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial diseaseEmma L Blakely, John W Yarham, Charlotte L Alston, et al.
Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
Annals of Clinical and Translational Neurology|January 13, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonismLionel Van Maldergem, Arnaud Besse, Boel De Paepe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
Annals of Neurology|June 13, 2019
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort studyYi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, et al.
Brain : a Journal of Neurology|October 31, 2012
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristicsRobert D S Pitceathly, Conrad Smith, Carl Fratter, et al.
Pageof 10

Showing results (81-90 of 95) with videos related to

Sort By:
Pageof 10
Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the <i>C12orf65</i> GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.
Human Mutation|May 23, 2013
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial diseaseEmma L Blakely, John W Yarham, Charlotte L Alston, et al.
Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
Annals of Clinical and Translational Neurology|January 13, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonismLionel Van Maldergem, Arnaud Besse, Boel De Paepe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
Annals of Neurology|June 13, 2019
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort studyYi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, et al.
Brain : a Journal of Neurology|October 31, 2012
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristicsRobert D S Pitceathly, Conrad Smith, Carl Fratter, et al.
Pageof 10