MRI characteristics and scoring in HDLS due to CSF1R gene mutations

OBJECTIVE: To describe the brain MRI characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS) with known mutations in the colony-stimulating factor 1 receptor gene (CSF1R) on chromosome 5. METHODS: We reviewed 20 brain MRI scans of 15 patients with autopsy- or biopsy-verified...

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Hlavní autoři: Sundal, Christina, Van Gerpen, Jay A., Nicholson, Alexandra M., Wider, Christian, Shuster, Elizabeth A., Aasly, Jan, Spina, Salvatore, Ghetti, Bernardino, Roeber, Sigrun, Garbern, James, Borjesson-Hanson, Anne, Tselis, Alex, Swerdlow, Russell H., Miller, Bradley B., Fujioka, Shinsuke, Heckman, Michael G., Uitti, Ryan J., Josephs, Keith A., Baker, Matt, Andersen, Oluf, Rademakers, Rosa, Dickson, Dennis W., Broderick, Daniel, Wszolek, Zbigniew K.
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3413763/
https://ncbi.nlm.nih.gov/pubmed/22843259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318263575a
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