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Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?
Neurology. 2009 Jun 2;72(22):1953-9. doi: 10.1212/WNL.0b013e3181a826c0.
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
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Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.
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Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.
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A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report.
Front Genet. 2025 Aug 15;16:1593964. doi: 10.3389/fgene.2025.1593964. eCollection 2025.
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CSF1R-related disorder: A clinical, imaging and genetic profile review.
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Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.
J Mol Neurosci. 2025 Jan 24;75(1):11. doi: 10.1007/s12031-024-02281-9.
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Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
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Case report: Treatment of advanced CSF1-receptor associated leukoencephalopathy with hematopoietic stem cell transplant.
Front Neurol. 2023 May 24;14:1163107. doi: 10.3389/fneur.2023.1163107. eCollection 2023.
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene.
Neurol Sci. 2022 Nov;43(11):6433-6440. doi: 10.1007/s10072-022-06328-w. Epub 2022 Aug 16.
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The Primary Microglial Leukodystrophies: A Review.
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1
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.
Arch Neurol. 2008 Nov;65(11):1496-501. doi: 10.1001/archneur.65.11.1496.
2
Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.
Neurology. 2008 Sep 16;71(12):925-9. doi: 10.1212/01.wnl.0000325916.30701.21.
4
Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.
Brain Pathol. 2009 Jan;19(1):39-47. doi: 10.1111/j.1750-3639.2008.00163.x. Epub 2008 Apr 15.
5
Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.
Neurology. 2008 Mar 25;70(13 Pt 2):1128-33. doi: 10.1212/01.wnl.0000304045.99153.8f. Epub 2008 Feb 20.
7
Lamin B1 duplications cause autosomal dominant leukodystrophy.
Nat Genet. 2006 Oct;38(10):1114-23. doi: 10.1038/ng1872. Epub 2006 Sep 3.
9
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred.
Acta Neuropathol. 2006 Apr;111(4):300-11. doi: 10.1007/s00401-006-0046-z. Epub 2006 Mar 8.
10
Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.
Acta Neuropathol. 2006 Jan;111(1):39-45. doi: 10.1007/s00401-005-1113-6. Epub 2005 Nov 23.

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