Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015...

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書誌詳細
出版年:Sci Rep
主要な著者: Mariani, L. L., Rivaud-Péchoux, S., Charles, P., Ewenczyk, C., Meneret, A., Monga, B. B., Fleury, M.-C., Hainque, E., Maisonobe, T., Degos, B., Echaniz-Laguna, A., Renaud, M., Wirth, T., Grabli, D., Brice, A., Vidailhet, M., Stoppa-Lyonnet, D., Dubois-d’Enghien, C., Le Ber, I., Koenig, M., Roze, E., Tranchant, C., Durr, A., Gaymard, B., Anheim, M.
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2017
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5681651/
https://ncbi.nlm.nih.gov/pubmed/29127364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-15127-9
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