Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a distinctive phenotype of neurodegenerative disease for which several causative genes have been identified. The spectrum of neurologic disease associated with mutations in NBIA genes is broad, with phenotypes that range fro...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Ann Neurol
Main Authors: Kruer, Michael C., Paisán-Ruiz, Coro, Boddaert, Nathalie, Yoon, Moon Y., Hama, Hiroko, Gregory, Allison, Malandrini, Alessandro, Woltjer, Randall L., Munnich, Arnold, Gobin, Stephanie, Polster, Brenda J., Palmeri, Silvia, Edvardson, Simon, Hardy, John, Houlden, Henry, Hayflick, Susan J.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6059612/
https://ncbi.nlm.nih.gov/pubmed/20853438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.22122
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker