Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series
Author:
Publisher
BMJ
Subject
Psychiatry and Mental health,Neurology (clinical),Surgery
Reference20 articles.
1. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids;Rademakers;Nat Genet,2011
2. CSF1R mutations link POLD and HDLS as a single disease entity;Nicholson;Neurology,2013
3. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene;Guerreiro;JAMA Neurol,2013
4. De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS);Karle;Neurology,2013
5. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity;Sundal;J Neurol Sci,2012
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3. Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP);Journal of Neurology;2024-07-20
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