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Intrafamilial Heterogeneity in Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

Overview
Journal Neurol Clin Pract
Date 2020 Feb 12
PMID 32042490
Citations 2
Authors
Carolina Lopes
Sara Duarte
Ernestina Santos
Carina Reis
Madalena Pinto
Affiliations
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A Novel Missense Mutation of the Gene Causes Incurable -Related Leukoencephalopathy: Case Report and Review of Literature.

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References
1.
Rademakers R, Baker M, Nicholson A, Rutherford N, Finch N, Soto-Ortolaza A . Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011; 44(2):200-5. PMC: 3267847. DOI: 10.1038/ng.1027. View
2.
Sundal C, van Gerpen J, Nicholson A, Wider C, Shuster E, Aasly J . MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012; 79(6):566-74. PMC: 3413763. DOI: 10.1212/WNL.0b013e318263575a. View
3.
Stabile C, Taglia I, Battisti C, Bianchi S, Federico A . Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics. Neurol Sci. 2016; 37(9):1565-9. DOI: 10.1007/s10072-016-2634-6. View
4.
Axelsson R, Roytta M, SOURANDER P, AKESSON H, Andersen O . Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl. 1984; 314:1-65. View