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...

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書誌詳細
出版年:Ann Neurol
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2010
主題:
Article
オンライン･アクセス: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
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