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Andrew M Schaefer

Showing results (51-60 of 60) with videos related to

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Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, 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.
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.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Brain : a Journal of Neurology|December 20, 2021
Forecasting stroke-like episodes and outcomes in mitochondrial diseaseYi Shiau Ng, Nichola Z Lax, Alasdair P Blain, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, 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.
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.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Brain : a Journal of Neurology|December 20, 2021
Forecasting stroke-like episodes and outcomes in mitochondrial diseaseYi Shiau Ng, Nichola Z Lax, Alasdair P Blain, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
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