CSF1R mutations link POLD and HDLS as a single disease entity

OBJECTIVE: Pigmented orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) are rare neurodegenerative disorders characterized by cerebral white matter abnormalities, myelin loss, and axonal swellings. The striking overlap of clinical and patholo...

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Главные авторы: Nicholson, Alexandra M., Baker, Matt C., Finch, NiCole A., Rutherford, Nicola J., Wider, Christian, Graff-Radford, Neill R., Nelson, Peter T., Clark, H. Brent, Wszolek, Zbigniew K., Dickson, Dennis W., Knopman, David S., Rademakers, Rosa
Формат: Artigo
Язык:Inglês
Опубликовано: Lippincott Williams & Wilkins 2013
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3653204/
https://ncbi.nlm.nih.gov/pubmed/23408870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31828726a7
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