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L Alston

Showing results (141-150 of 174) with videos related to

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Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Life Science Alliance|August 1, 2022
Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanismsKelsey A Nolden, John M Egner, Jack J Collier, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
Molecular Cell|August 9, 2016
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain FunctionBrendan J Floyd, Emily M Wilkerson, Mike T Veling, 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.
Pageof 18

Showing results (141-150 of 174) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Life Science Alliance|August 1, 2022
Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanismsKelsey A Nolden, John M Egner, Jack J Collier, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
Molecular Cell|August 9, 2016
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain FunctionBrendan J Floyd, Emily M Wilkerson, Mike T Veling, 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.
Pageof 18