Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominantly inherited central nervous system white matter disease with variable clinical presentations including personality and behavioral changes, dementia, depression, parkinsonism, seizures, and others(1,2). We combined...

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Detalhes bibliográficos
Main Authors: Rademakers, Rosa, Baker, Matt, Nicholson, Alexandra M., Rutherford, Nicola J., Finch, NiCole, Soto-Ortolaza, Alexandra, Lash, Jennifer, Wider, Christian, Wojtas, Aleksandra, DeJesus-Hernandez, Mariely, Adamson, Jennifer, Kouri, Naomi, Sundal, Christina, Shuster, Elizabeth A., Aasly, Jan, MacKenzie, James, Roeber, Sigrun, Kretzschmar, Hans A., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Cairns, Nigel J., Ghetti, Bernardino, Spina, Salvatore, Garbern, James, Tselis, Alexandros C., Uitti, Ryan, Das, Pritam, Van Gerpen, Jay A., Meschia, James F., Levy, Shawn, Broderick, Daniel F., Graff-Radford, Neill, Ross, Owen A., Miller, Bradley B., Swerdlow, Russell H., Dickson, Dennis W., Wszolek, Zbigniew K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3267847/
https://ncbi.nlm.nih.gov/pubmed/22197934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1027
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