Mélanie Quilès

发表

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

N. Boddaert, Majida Charif, D. Bonneau, 2017, Brain : a journal of neurology.

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 dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

G. Labesse, M. Gaestel, Salomon Y. Cohen, 2016, Human molecular genetics.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American journal of human genetics.

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

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

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.

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

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

ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome

B. Delprat, D. Milea, M. Thiry, 2018, Science Signaling.

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

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

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

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

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

M. Larsen, D. Milea, G. Lenaers, 2017, Human molecular genetics.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

N. Boddaert, D. Bonneau, P. Amati‐Bonneau, 2018, Brain : a journal of neurology.

ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome

B. Delprat, D. Milea, M. Thiry, 2018, Science Signaling.

Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea

Mélanie Quilès, Laura Fichter, Léna Meneux, 2024, bioRxiv.