List of works by Emmanuelle Sarzi

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

scientific article published on 20 March 2018

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

scientific article published on 01 January 2020

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

scientific article published on 27 July 2019

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

scientific article published on 29 May 2015

Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.

scientific article

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

scientific article published on 3 June 2016

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

scientific article published on 16 October 2017

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

scientific article published on 13 January 2015

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

scientific article published on 6 February 2018

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

scientific article published on 23 August 2015

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

scientific article published on 22 September 2017

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

scientific article published in February 2017

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

scientific article published in December 2012

Why mitochondria must fuse to maintain their genome integrity

scientific article

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