Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45

참고문헌 (5)

1. Kruer MC, "Neuroimaging features of neurodegeneration with brain iron accumulation", AJNR Am J Neuroradiol, 33, pp.407~414 (2012)
2. Verhoeven WM, "Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients", Parkinsonism Relat Disord, 20, pp.332~336 (2014)
3. Haack TB, "Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA", Am J Hum Genet, 91, pp.1144~1149 (2012)
4. Saitsu H, "De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood", Nat Genet, 45, pp.445~449 (2013)
5. Behrends C, "Network organization of the human autophagy system", Nature, 466, pp.68~76 (2010)

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