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Reply: The expanding neurological phenotype of DNM1L-related disorders

Archive ouverte | Gerber, Sylvie | CCSD

Comment on :Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. [Brain. 2017]The expanding neurological phenotype of DNM1L-related disorders. [Brain. 2018]...

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Archive ouverte | Angebault Prouteau, Claire | CCSD

International audience. Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are know...

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Archive ouverte | Rozet, Jean-Michel | CCSD

International audience. Importance: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown t...

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