| 1 | CSF1R, HDLS, POLD
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| CSF1R mutations link POLD and HDLS as a single disease entity.
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| Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R.
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| Neurology 80(11):1033-40. doi: 10.1212/WNL.0b013e31828726a7. Epub 2013 Feb 13.
2013
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| 2 | CSF1R, HDLS
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| Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.
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| Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S.
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| J Neurol 260(2):558-71. doi: 10.1007/s00415-012-6680-6. Epub 2012 Sep 30. Review.
2013
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| 3 | CSF1R, HDLS
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| CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
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| Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.
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| Am J Med Genet B Neuropsychiatr Genet 159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4.
2012
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| 4 | CSF1R, HDLS
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| MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
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| Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, Broderick D, Wszolek ZK.
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| Neurology 79(6):566-74. doi: 10.1212/WNL.0b013e318263575a. Epub 2012 Jul 25.
2012
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| 5 | CSF1R, HDLS
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| Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
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| Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK.
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| Nat Genet 44(2):200-5. doi: 10.1038/ng.1027.
2011
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