논문KCI 등재
Novel MYORG Variant Linked to Primary Familial Brain Calcification
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참고문헌 (6)
- Mufaddel AA, "Familial idiopathic basal ganglia calcification(Fahr’s disease)", Neurosciences(Riyadh), 19, pp.171~177 (2014)
- Donzuso G, "Basal ganglia calcifications(Fahr’s syndrome) : related conditions and clinical features", Neurol Sci, 40, pp.2251~2263 (2019)
- Meek RW, "The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity", PLoS Biol, 20, pp.e3001764~ (2022)
- 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)
- Yao XP, "Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification", Neuron, 98, pp.1116~1123 (2018)
- Song T, "A novel MYORG mutation causes primary familial brain calcification with migraine : case report and literature review", Front Neurol, 14, pp.1110227~ (2023)
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