논문KCI 등재
A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations
대한신경과학회 (Korean Neurological Association)|2020.04|Journal of Clinical Neurology|제16권 제2호|pp. 338-340
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참고문헌 (7)
- Thiffault I, "Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III", Nat Commun, 6, pp.7623~ (2015)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Park JL, "Epigenetic regulation of noncoding RNA transcription by mammalian RNA polymerase III", Epigenomics, 9, pp.171~187 (2017)
- Wolf NI, "Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations", Neurology, 83, pp.1898~1905 (2014)
- Steenweg ME, "Magnetic resonance imaging pattern recognition in hypomyelinating disorders", Brain, 133, pp.2971~2982 (2010)
- Cayami FK, "4H leukodystrophy : lessons from 3T imaging", Neuropediatrics, 49, pp.112~117 (2018)
- Kraoua I, "Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia", Mol Genet Genomic Med, 7, pp.e914~ (2019)
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