Publications by authors named "Riyad El-Khoury"

23Publications

FARS2 Mutations: More Than Two Phenotypes? A Case Report.

Front Genet 2020 22;11:787. Epub 2020 Jul 22.

Department of Neurology, American University of Beirut Medical Center, Beirut, Lebanon.

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July 2020

Novel pleiotropic BRCA2 pathogenic variants in Lebanese families.

Cancer Genet 2019 02 30;231-232:32-35. Epub 2018 Dec 30.

Medical Genetics Unit, Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address:

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February 2019

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.

J Neuropathol Exp Neurol 2019 01;78(1):88-98

Neuromuscular Diagnostic Laboratory, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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January 2019

Linezolid Toxicity and Mitochondrial Susceptibility: A Novel Neurological Complication in a Lebanese Patient.

Front Pharmacol 2016 20;7:325. Epub 2016 Sep 20.

Department of Internal Medicine, American University of Beirut Medical Center, American University of Beirut, Beirut Lebanon.

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September 2016

Expression of the alternative oxidase mitigates beta-amyloid production and toxicity in model systems.

Free Radic Biol Med 2016 07 14;96:57-66. Epub 2016 Apr 14.

INSERM UMR 1141 and Université Paris 7, Faculté de Médecine Denis Diderot, Hôpital Robert Debré, 48, Boulevard Sérurier, 75019 Paris, France.

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July 2016

Mitochondrial cytochrome c oxidase deficiency.

Clin Sci (Lond) 2016 Mar;130(6):393-407

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1141, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France Faculté de Médecine Denis Diderot, Université Paris Diderot-Paris 7, Site Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France

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March 2016

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.

Mol Genet Metab Rep 2015 Jun;3:43-46

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.

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June 2015

Disconnecting mitochondrial content from respiratory chain capacity in PGC-1-deficient skeletal muscle.

Cell Rep 2013 May 23;3(5):1449-56. Epub 2013 May 23.

Cardiovascular Institute, Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA.

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May 2013

Glucose modulates respiratory complex I activity in response to acute mitochondrial dysfunction.

J Biol Chem 2012 Nov 24;287(46):38729-40. Epub 2012 Sep 24.

Institute of Biomedical Technology and Centre for Laboratory Medicine, Tampere University Hospital, University of Tampere, 33014 Tampere, Finland.

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November 2012

PGC-1α is dispensable for exercise-induced mitochondrial biogenesis in skeletal muscle.

PLoS One 2012 24;7(7):e41817. Epub 2012 Jul 24.

Cardiovascular Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, United States of America.

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April 2013

Developmental aspects of respiratory chain from fetus to infancy.

Semin Fetal Neonatal Med 2011 Aug 2;16(4):175-80. Epub 2011 Jun 2.

INSERM U676, Hôpital Robert Debré, 75019 Paris, France.

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August 2011

Mitochondrial response to controlled nutrition in health and disease.

Nutr Rev 2011 Feb 14;69(2):65-75. Epub 2011 Jan 14.

Centre de référence Maladies Métaboliques, Hôpital Robert Debré, APHP, Université Paris 7, Faculté de médecine Denis Diderot, IFR02, INSERM, U676, Paris, France.

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February 2011

Deletion of the mitochondrial NADH kinase increases mitochondrial DNA stability and life span in the filamentous fungus Podospora anserina.

Exp Gerontol 2010 Aug 22;45(7-8):543-9. Epub 2010 Jan 22.

Centre National de la Recherche Scientifique, Centre de Génétique Moléculaire, Gif-sur-Yvette, France.

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August 2010

Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina.

Genetics 2009 Nov 17;183(3):861-71. Epub 2009 Aug 17.

Centre National de la Recherche Scientifique (CNRS), Centre de Génétique Moléculaire, Gif-sur-Yvette F-91198, France.

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November 2009

Gene deletion and allelic replacement in the filamentous fungus Podospora anserina.

Curr Genet 2008 Apr 12;53(4):249-58. Epub 2008 Feb 12.

CNRS, Centre de Génétique Moléculaire, UPR 2167, Avenue de la Terrasse, Bat. 26, 91198, Gif-sur-Yvette, France.

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April 2008