Camille Piro-Mégy

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Claire Angebault, Pierre‐Olivier Guichet, Yasmina Talmat-Amar et al. · The American Journal of Human Genetics · 2015 · 72 citations · Full text

Rtn4ip1 Cause Isolated, Mendelian Disorder, Genetic Disorder +7

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

Emmanuelle Sarzi, Marie Seveno, Camille Piro-Mégy et al. · Scientific Reports · 2018 · 72 citations · Full text

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

Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé et al. · Journal of Clinical Investigation · 2019 · 64 citations · Full text

Genetics, Dominant Optic Atrophy, Molecular Biology +17

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Claire Angebault, Majida Charif, Naïg Guegen et al. · Human Molecular Genetics · 2015 · 49 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +17

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

Isabelle Meunier, Guy Lenaers, Béatrice Bocquet et al. · Human Molecular Genetics · 2016 · 15 citations · Full text