Clinicopathologic and Genetic Studies of 2 Patients With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Lan Min-Yu; Liu Jia-Shou; Chang Chiung-Chih; Chen Ying-Fa; Su Cheng-San; Peng Cheng-Huei; Chang Yung-Yee

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Clinicopathologic and Genetic Studies of 2 Patients With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

机译：2例遗传性弥漫性白质脑病伴轴突球体的临床病理和遗传学研究

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《Alzheimer disease and associated disorders》 |2016年第1期|共4页
作者
Lan Min-Yu; Liu Jia-Shou; Chang Chiung-Chih; Chen Ying-Fa; Su Cheng-San; Peng Cheng-Huei; Chang Yung-Yee;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
axonal spheroid; frontal lobe; leukodystrophy; macrophage colony-stimulating factor 1 receptor; magnetic resonance imaging; mutation;

机译：轴突球体;额叶;白细胞营养不良;巨噬细胞集落刺激因子1受体;磁共振成像;突变;

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专利

1. Clinicopathologic and Genetic Studies of 2 Patients With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids [J] . Lan Min-Yu, Liu Jia-Shou, Chang Chiung-Chih, Alzheimer disease and associated disorders . 2016,第1期

机译：2例遗传性弥漫性白质脑病伴轴突球体的临床病理和遗传学研究
2. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics [J] . Stabile Carmen, Taglia Ilaria, Battisti Carla, Neurological sciences . 2016,第9期

机译：遗传性弥漫性白质脑病与轴突球体（HDLS）：分子遗传学的最新进展。
3. A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids [J] . Di Donato Ilaria, Stabile Carmen, Bianchi Silvia, Journal of Alzheimer's disease: JAD . 2015,第2期

机译：具有遗传性弥漫性白质脑病伴轴突球体的临床和神经影像学特征的患者中的新型CSF1R突变
4. Study of APOE and APOC1 Gene Polymorphisms in Patients with Traumatic Brain Injury and Diffuse Axonal Injury [C] . GM. Hadjigeorgiou, K. Paterakis, E. Dardiotis, European Congress of Neurosurgery . 2003

机译：创伤性脑损伤患者Apoe和Apoc1基因多态性的研究及弥漫性轴突损伤
5. The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-associated myelination in hereditary neuropathies: Studies on nerve xenografts. [D] . Sahenk, Zarife. 1998

机译：突变的雪旺细胞对遗传性神经病中轴突细胞骨架和再生相关的髓鞘形成的影响：神经异种移植的研究。
6. Intrafamilial heterogeneity in hereditary diffuse leukoencephalopathy with axonal spheroids [O] . Carolina Lopes, Sara Duarte, Ernestina Santos, 2019

机译：遗传弥漫性白细胞病与轴突球体的植物型异质性
7. A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids [O] . Di Donato, Ilaria, Stabile, Carmen, Bianchi, Silvia, 2015

机译：新型CSF1R突变的遗传性弥漫性白质脑病伴轴突球体的临床和神经影像学特征的患者。

Clinicopathologic and Genetic Studies of 2 Patients With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

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