Sylvie Gerber
Paris, 75015, France
Last Updated: 09/26/2026
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Found 22 publications
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Journal: Brain : a journal of neurology
Published: December 16, 2022
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Journal: EMBO molecular medicine
Published: April 04, 2022
En Face Optical Coherence Tomography Imaging in Enhanced S-Cone Syndrome.
Journal: Retina (Philadelphia, Pa.)
Published: May 30, 2020
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Journal: The Journal of clinical investigation
Published: March 19, 2020
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Journal: Brain : a journal of neurology
Published: March 13, 2018
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Journal: JAMA neurology
Published: November 29, 2017
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME.
Journal: Retinal cases & brief reports
Published: May 26, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Journal: Brain : a journal of neurology
Published: March 10, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Journal: American journal of human genetics
Published: February 10, 2017
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.
Journal: Journal of medical genetics
Published: August 04, 2016
Last Updated: 09/26/2026