New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

OBJECTIVE: To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype. METHODS: Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identif...

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主要な著者: Hogarth, Penelope, Gregory, Allison, Kruer, Michael C., Sanford, Lynn, Wagoner, Wendy, Natowicz, Marvin R., Egel, Robert T., Subramony, S.H., Goldman, Jennifer G., Berry-Kravis, Elizabeth, Foulds, Nicola C., Hammans, Simon R., Desguerre, Isabelle, Rodriguez, Diana, Wilson, Callum, Diedrich, Andrea, Green, Sarah, Tran, Huong, Reese, Lindsay, Woltjer, Randall L., Hayflick, Susan J.
フォーマット: Artigo
言語:Inglês
出版事項: Lippincott Williams & Wilkins 2013
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3589182/
https://ncbi.nlm.nih.gov/pubmed/23269600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31827e07be
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