Haploinsufficiency of <i>CSF-1R</i> and clinicopathologic characterization in patients with HDLS

Haploinsufficiency of <i>CSF-1R</i> and clinicopathologic characterization in patients with HDLS

<h3>Objective:</h3> To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony stimulating factor 1 receptor (<i>CSF-1R</i>) mutation. <h3>Methods:</h3>...

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Detalhes bibliográficos
Principais autores: Takuya Konno, Masayoshi Tada, Mari Tada, Akihide Koyama, Hiroaki Nozaki, Yasuo Harigaya, Jin Nishimiya, Akiko Matsunaga, Nobuaki Yoshikura, Kenji Ishihara, Musashi Arakawa, Aiko Isami, Ken–ichi Okazaki, Hideaki Yokoo, Kyoko Itoh, Makoto Yoneda, Mitsuru Kawamura, Takashi Inuzuka, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera, Akiyoshi Kakita, Takeshi Ikeuchi
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Acesso em linha:https://doi.org/10.1212/wnl.0000000000000046
https://n.neurology.org/content/neurology/82/2/139.full.pdf
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https://doi.org/10.1212/wnl.0000000000000046
https://n.neurology.org/content/neurology/82/2/139.full.pdf

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