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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480908/
https://www.ncbi.nlm.nih.gov/pubmed/32777174
http://dx.doi.org/10.1002/acn3.51151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480908/
https://www.ncbi.nlm.nih.gov/pubmed/32777174
http://dx.doi.org/10.1002/acn3.51151

Ejemplares similares