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Molecular and Cellular Biology|October 22, 2008
TRBP control of PACT-induced phosphorylation of protein kinase R is reversed by stressAïcha Daher, Ghislaine Laraki, Madhurima Singh, et al.
Brain : a Journal of Neurology|December 23, 2011
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotypeCécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Annales De Biologie Clinique|February 15, 2021
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]Benoit Rucheton, Flavie Ader, David Goudenege, et al.
Neurobiology of Aging|August 27, 2014
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patientsAnnabelle Chaussenot, Isabelle Le Ber, Samira Ait-El-Mkadem, et al.
Human Molecular Genetics|March 24, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactionsCécile Rouzier, David Moore, Cécile Delorme, et al.
Mitochondrion|August 25, 2012
The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damageSylvie Bannwarth, Alexia Figueroa, Konstantina Fragaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 6, 2018
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing dataDavid Goudenège, Celine Bris, Virginie Hoffmann, et al.
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