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

IMPORTANCE: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. OBJECTIVE: To define the spectrum of clinical phenotypes a...

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Opis bibliograficzny
Wydane w:JAMA Neurol
Główni autorzy: Charif, Majida, Nasca, Alessia, Thompson, Kyle, Gerber, Sylvie, Makowski, Christine, Mazaheri, Neda, Bris, Céline, Goudenège, David, Legati, Andrea, Maroofian, Reza, Shariati, Gholamreza, Lamantea, Eleonora, Hopton, Sila, Ardissone, Anna, Moroni, Isabella, Giannotta, Melania, Siegel, Corinna, Strom, Tim M., Prokisch, Holger, Vignal-Clermont, Catherine, Derrien, Sabine, Zanlonghi, Xavier, Kaplan, Josseline, Hamel, Christian P., Leruez, Stephanie, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, White, Frances E., Hardy, Steven A., Barbosa, Inês A., Simpson, Michael A., Vara, Roshni, Perdomo Trujillo, Yaumara, Galehdari, Hamind, Deshpande, Charu, Haack, Tobias B., Rozet, Jean-Michel, Taylor, Robert W., Ghezzi, Daniele, Amati-Bonneau, Patrizia, Lenaers, Guy
Format: Artigo
Język:Inglês
Wydane: American Medical Association 2017
Hasła przedmiotowe:
Original Investigation
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5833489/
https://ncbi.nlm.nih.gov/pubmed/29181510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2017.2065
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