Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.

doi:10.1111/ene.15796

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Article

Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.

European journal of neurology - 1 Jul 2023

Ishiguro Takanobu, Konno Takuya, Hara Norikazu, Zhu Bin, Okada Satoshi, Shibata Mamoru, Saika Reiko, Kitano Takaya, Toko Megumi, Nezu Tomohisa, Hama Yuka, Kawazoe Tomoya, Takahashi-Iwata Ikuko, Yabe Ichiro, Sato Kota, Takeda Hayato, Toda Shintaro, Nishimiya Jin, Teduka Toshiyuki, Nozaki Hiroaki, Kasuga Kensaku, Miyashita Akinori, Onodera Osamu, Ikeuchi Takeshi

Abstract excerpt

BACKGROUND AND PURPOSE: Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features. METHODS: Mutational analysis of CSF1R was performed for 100 consecutive patients with adult-onset...

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PMID: 36943150
DOI: 10.1111/ene.15796

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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