Pierre Rustin - JoVE Visualize

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Human Genetics|March 5, 2003

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromePaule Bénit, Julie Steffann, Sophie Lebon, et al.

Journal of the American Society of Nephrology : JASN|July 23, 2003

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutationBruno Guéry, Gabriel Choukroun, Laure-Hélène Noël, et al.

Cancer Research|September 23, 2003

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomasAnne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Rustin, et al.

Biochimie|December 21, 2013

Effect of Lon protease knockdown on mitochondrial function in HeLa cellsAurélien Bayot, Monique Gareil, Laurent Chavatte, et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|September 1, 2005

Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosisMarie Lino, Raynald Binaut, Laure-Hélène Noël, et al.

Human Mutation|May 20, 2003

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyPaule Bénit, Réjane Beugnot, Dominique Chretien, et al.

Scientific Reports|March 28, 2017

Acute and chronic mitochondrial respiratory chain deficiency differentially regulate lysosomal biogenesisLorena Fernández-Mosquera, Cátia V Diogo, King Faisal Yambire, et al.

Human Molecular Genetics|August 8, 2018

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10Xiaoping Huang, Beverly P Wu, Diana Nguyen, et al.

Journal of Hypertension|January 17, 2009

Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneityAlexandre Persu, Mustapha Amyere, Ilse Gutierrez-Roelens, et al.

Plos Genetics|January 10, 2013

Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproductionRiyad El-Khoury, Eric Dufour, Malgorzata Rak, et al.

Pageof 16

Showing results (101-110 of 154) with videos related to

Sort By:

Pageof 16

Human Genetics|March 5, 2003

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromePaule Bénit, Julie Steffann, Sophie Lebon, et al.

Journal of the American Society of Nephrology : JASN|July 23, 2003

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutationBruno Guéry, Gabriel Choukroun, Laure-Hélène Noël, et al.

Cancer Research|September 23, 2003

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomasAnne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Rustin, et al.

Biochimie|December 21, 2013

Effect of Lon protease knockdown on mitochondrial function in HeLa cellsAurélien Bayot, Monique Gareil, Laurent Chavatte, et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|September 1, 2005

Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosisMarie Lino, Raynald Binaut, Laure-Hélène Noël, et al.

Human Mutation|May 20, 2003

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyPaule Bénit, Réjane Beugnot, Dominique Chretien, et al.

Scientific Reports|March 28, 2017

Acute and chronic mitochondrial respiratory chain deficiency differentially regulate lysosomal biogenesisLorena Fernández-Mosquera, Cátia V Diogo, King Faisal Yambire, et al.

Human Molecular Genetics|August 8, 2018

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10Xiaoping Huang, Beverly P Wu, Diana Nguyen, et al.

Journal of Hypertension|January 17, 2009

Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneityAlexandre Persu, Mustapha Amyere, Ilse Gutierrez-Roelens, et al.

Plos Genetics|January 10, 2013

Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproductionRiyad El-Khoury, Eric Dufour, Malgorzata Rak, et al.

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