一例与PDE10A相关的儿童期起病舞蹈症伴双侧纹状体病变的家族性病例。 - Suppr | 超能文献

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A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.一例与PDE10A相关的儿童期起病舞蹈症伴双侧纹状体病变的家族性病例。

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2

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.磷酸二酯酶10A基因的新生突变导致伴有双侧纹状体病变的儿童期起病的舞蹈症。

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Familial choreoathetosis due to novel heterozygous mutation in PDE10A.由PDE10A基因新的杂合突变导致的家族性舞蹈手足徐动症。

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A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.一种PDE10A新发突变导致儿童期起病的伴有日间波动的舞蹈症。

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A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.PDE2A 基因纯合功能丧失性突变导致早发性遗传性舞蹈病。

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Benign hereditary chorea: clinical, neuroimaging, and genetic findings.良性遗传性舞蹈病：临床、神经影像学及遗传学研究结果

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PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.PDE10A 和 ADCY5 突变与基底节区的分子和微观结构病理学相关。

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Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.拓展与磷酸二酯酶10A相关运动障碍的基因型-表型格局。

Parkinsonism Relat Disord. 2023 Mar;108:105323. doi: 10.1016/j.parkreldis.2023.105323. Epub 2023 Feb 13.

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Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation.良性遗传性舞蹈病：新型 NKX2.1 基因内含子突变患者的多巴胺能脑影像学。

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Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.双侧纹状体坏死伴线粒体ATP酶6基因新的点突变。

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