Neuronal intranuclear inclusion disease is genetically heterogeneous

Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We scre...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Chen, Zhongbo, Yan Yau, Wai, Jaunmuktane, Zane, Tucci, Arianna, Sivakumar, Prasanth, Gagliano Taliun, Sarah A., Turner, Chris, Efthymiou, Stephanie, Ibáñez, Kristina, Sullivan, Roisin, Bibi, Farah, Athanasiou‐Fragkouli, Alkyoni, Bourinaris, Thomas, Zhang, David, Revesz, Tamas, Lashley, Tammaryn, DeTure, Michael, Dickson, Dennis W., Josephs, Keith A., Gelpi, Ellen, Kovacs, Gabor G., Halliday, Glenda, Rowe, Dominic B., Blair, Ian, Tienari, Pentti J., Suomalainen, Anu, Fox, Nick C., Wood, Nicholas W., Lees, Andrew J., Haltia, Matti J., Hardy, John, Ryten, Mina, Vandrovcova, Jana, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7480908/
https://ncbi.nlm.nih.gov/pubmed/32777174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51151
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