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A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant white matter disease that causes adult-onset cognitive impairment. The clinical manifestations are a variable combination of personality and behavioral changes, cognitive decline, parkinsonism, spasticity, and epil...

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Detalles Bibliográficos
Autores principales:	Ueda, Sakiho, Yamashita, Hirofumi, Hikiami, Ryota, Sawamoto, Nobukatsu, Yoshida, Kunihiro, Takahashi, Ryosuke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852683/ https://www.ncbi.nlm.nih.gov/pubmed/29479570 http://dx.doi.org/10.1016/j.ensci.2015.07.001

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