E. Sarzi

发表

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Neurobiology of Disease.

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

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2017, Investigative ophthalmology & visual science.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Sarah Calvo, Paolo Gasparini, Massimo Zeviani, 2006, Nature Genetics.

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

N. Boddaert, J. Renou, Jing Wang, 2012, Brain : a journal of neurology.

Protective role of the mitochondrial fusion protein OPA1 in hypertension

G. Lenaers, P. Reynier, C. Fassot, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

P. Chinnery, P. Yu-Wai-Man, G. Lenaers, 2011, Genome research.

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

G. Lenaers, P. Reynier, D. Henrion, 2016, PloS one.

Molecular diagnostics of mitochondrial disorders.

A. Munnich, A. Rötig, E. Sarzi, 2004, Biochimica et biophysica acta.

Neurological Diseases Associated with Mutations in the Mitochondrial Fusion Machinery

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2011 .

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

M. Larsen, D. Milea, G. Lenaers, 2016, Human molecular genetics.

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

A. Munnich, M. Brown, V. Procaccio, 2007, American journal of medical genetics. Part A.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

A. Munnich, A. Rötig, V. Cormier-Daire, 2007, The Journal of pediatrics.

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

G. Lenaers, M. Seveno, C. Hamel, 2018, Scientific Reports.

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

A. Munnich, D. Seidenwurm, N. Boddaert, 2008, Molecular genetics and metabolism.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

M. Picot, P. Amati‐Bonneau, G. Lenaers, 2015, Journal of the Neurological Sciences.

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

F. Rivier, Majida Charif, G. Lenaers, 2019, Annals of clinical and translational neurology.

SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium

P. Brabet, E. Sarzi, I. Meunier, 2022, Genes.

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

A. Munnich, A. Rötig, J. N. Spelbrink, 2007, Annals of neurology.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Yusuke Nakamura, Véronique Paquis-Flucklinger, Arnold Munnich, 2007, Nature Genetics.

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

A. Munnich, N. Boddaert, A. Rötig, 2009, Molecular genetics and metabolism.

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

H. Wilhelm, D. Goudenège, Majida Charif, 2019, The Journal of clinical investigation.

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo.

M. Cavalier, M. Seveno, C. Hamel, 2017, Journal of visualized experiments : JoVE.

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

G. Lenaers, R. Chrast, E. Sarzi, 2015, Mitochondrion.

Why mitochondria must fuse to maintain their genome integrity.

G. Lenaers, C. Zanna, M. Rugolo, 2013, Antioxidants & redox signaling.

Optic neuropathy linked to ACAD9 pathogenic variants: a potentially riboflavin-responsive disorder?

M. Koenig, G. Lenaers, P. Reynier, 2021, Mitochondrion.

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

M. Koenig, P. Rustin, C. Marelli, 2018, Neurology: Genetics.