Présentation
Publications scientifiques
-
2023Journal (source)EMBO Mol Med
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
-
2023Journal (source)Brain
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-...
-
2021Journal (source)J Clin Invest
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
-
2018Journal (source)Brain
Reply: The expanding neurological phenotype of DNM1L-related disorders.
-
2017Journal (source)JAMA Neurol
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
-
2017Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
-
2017Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
-
2016Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic mutations cause non-syndr...
-
2012Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
-
2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
-
2004Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
-
2003Journal (source)Am J Hum Genet
The ABCA4 gene in autosomal recessive cone-rod dystrophies.