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L Alston

Showing results (151-160 of 174) with videos related to

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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.
Brain Communications|October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
The New England Journal of Medicine|July 17, 2025
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA DiseaseLouise A Hyslop, Emma L Blakely, Magomet Aushev, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosisHannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.
Pageof 18

Showing results (151-160 of 174) with videos related to

Sort By:
Pageof 18
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.
Brain Communications|October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
The New England Journal of Medicine|July 17, 2025
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA DiseaseLouise A Hyslop, Emma L Blakely, Magomet Aushev, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosisHannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.
Pageof 18