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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
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

Internet

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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