Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS - Konno, Takuya; Tada, Masayoshi; Tada, Mari; Koyama, Akihide; Nozaki, Hiroaki; Harigaya, Yasuo; Nishimiya, Jin; Matsunaga, Akiko; Yoshikura, Nobuaki; Ishihara, Kenji; Arakawa, Musashi; Isami, Aiko; et al. (Neurology, 2014)
Keywords: Adult; Age of Onset; Aged; Asian Continental Ancestry Group; Blotting, Western; Brain - pathology; Disease Progression; DNA Mutational Analysis; Female; Gliosis - congenital; Gliosis - genetics; Gliosis - pathology; Haploinsufficiency - genetics; Humans; Image Processing, Computer-Assisted; Immunohistochemistry; Leukoencephalopathies - genetics; Leukoencephalopathies - pathology; Longitudinal Studies; Magnetic Resonance Imaging; Male; Middle Aged; Mutation - genetics; Mutation - physiology; Phosphorylation; Receptors, Colony-Stimulating Factor - genetics; RNA, Messenger - biosynthesis; RNA, Messenger - genetics; Tomography, X-Ray Computed