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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2013
Konular:
Article
Online Erişim: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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