Afficher la couverture 'Reply: The expanding neurological phenotype of DNM1L-related disorders | Gerber, Sylvie' en grand format
/5

0 avis

Reply: The expanding neurological phenotype of DNM1L-related disorders

Archive ouverte

Gerber, Sylvie | Charif, Majida | Chevrollier, Arnaud | Chaumette, Tanguy | Angebault, Claire | Kane, Selma | Paris, Aurélien | Alban, Jennifer | Quilès, Melanie | Delettre, Cécile | Bonneau, Dominique | Procaccio, Vincent | Amati-Bonneau, Patrizia | Reynier, Pascal | Leruez, Stéphanie | Calmon, Raphael | Boddaert, Nathalie | Funalot, Benoît | Rio, Marlène | Bouccara, Didier | Meunier, Isabelle | Sesaki, Hiromi | Kaplan, Josseline | Hamel, Christian | Rozet, Jean-Michel | Lenaers, Guy

Edité par CCSD ; Oxford University Press -

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]. International audience. Letter to the editor

Consulter en ligne

Suggestions

Du même auteur

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

Archive ouverte | Gerber, Sylvie | CCSD

International audience

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

Archive ouverte | Charif, Majida | CCSD

International audience. Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal degeneration ...

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

Archive ouverte | Charif, Majida | CCSD

International audience. Abstract Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal dege...

Chargement des enrichissements...