Emmanuelle Sarzi

Publications

• Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice
  Investigative Ophthalmology & Visual Science. Feb, 2017  |   Pubmed ID: 28159969
• Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model
  PloS One. 2016  |   Pubmed ID: 27723783
• Increased Steroidogenesis Promotes Early-onset and Severe Vision Loss in Females with OPA1 Dominant Optic Atrophy
  Human Molecular Genetics. Jun, 2016  |   Pubmed ID: 27260406
• OPA1-related Disorders: Diversity of Clinical Expression, Modes of Inheritance and Pathophysiology
  Neurobiology of Disease. Jun, 2016  |   Pubmed ID: 26311407
• In Vivo Time-lapse Imaging of Mitochondria in Healthy and Diseased Peripheral Myelin Sheath
  Mitochondrion. Jul, 2015  |   Pubmed ID: 26031781
• Neuroradiological Findings Expand the Phenotype of OPA1-related Mitochondrial Dysfunction
  Journal of the Neurological Sciences. Feb, 2015  |   Pubmed ID: 25641387
• Why Mitochondria Must Fuse to Maintain Their Genome Integrity
  Antioxidants & Redox Signaling. Aug, 2013  |   Pubmed ID: 23350575
• The Human OPA1delTTAG Mutation Induces Premature Age-related Systemic Neurodegeneration in Mouse
  Brain : a Journal of Neurology. Dec, 2012  |   Pubmed ID: 23250881
• OPA1 Links Human Mitochondrial Genome Maintenance to MtDNA Replication and Distribution
  Genome Research. Jan, 2011  |   Pubmed ID: 20974897
• [Mitochondrial Genome Instability and Associated Diseases]
  Medecine Sciences : M/S. Feb, 2010  |   Pubmed ID: 20188049
• Twinkle Helicase (PEO1) Gene Mutation Causes Mitochondrial DNA Depletion
  Annals of Neurology. Dec, 2007  |   Pubmed ID: 17722119
• Mutation of RRM2B, Encoding P53-controlled Ribonucleotide Reductase (p53R2), Causes Severe Mitochondrial DNA Depletion
  Nature Genetics. Jun, 2007  |   Pubmed ID: 17486094
• Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood
  The Journal of Pediatrics. May, 2007  |   Pubmed ID: 17452231
• A Novel Recurrent Mitochondrial DNA Mutation in ND3 Gene is Associated with Isolated Complex I Deficiency Causing Leigh Syndrome and Dystonia
  American Journal of Medical Genetics. Part A. Jan, 2007  |   Pubmed ID: 17152068
• MPV17 Encodes an Inner Mitochondrial Membrane Protein and is Mutated in Infantile Hepatic Mitochondrial DNA Depletion
  Nature Genetics. May, 2006  |   Pubmed ID: 16582910
• Molecular Diagnostics of Mitochondrial Disorders
  Biochimica Et Biophysica Acta. Dec, 2004  |   Pubmed ID: 15576044