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Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) presents with a variety of clinical phenotypes including motor impairments such as gait dysfunction, rigidity, tremor and bradykinesia as well as cognitive deficits including personality changes and dementia. In recent years, colony stimul...
Autores principales: | Robinson, John L., Suh, EunRan, Wood, Elisabeth M., Lee, Edward B., Coslett, H. Branch, Raible, Kevin, Lee, Virginia M.-Y., Trojanowski, John Q., Van Deerlin, Vivianna M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491242/ https://www.ncbi.nlm.nih.gov/pubmed/26141825 http://dx.doi.org/10.1186/s40478-015-0219-x |
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