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CORC

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Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations 期刊论文
ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2019, 卷号: 22, 期号: 3
作者:  Huang, Hongyan;  Yang, Xinglong;  Liu, Ling;  Xu, Yanming
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/04
Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family: Case report and literature review. 期刊论文
Medicine, 2019, 卷号: 98, 期号: 22
作者:  Shi Tianji;  Li Jia;  Tan Cheng;  Chen Jiajun
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文
CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3
作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang
收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes 期刊论文
NEUROLOGY-GENETICS, 2019, 卷号: 5, 期号: 2
作者:  Sun, Chong;  Song, Jie;  Jiang, Yanjun;  Zhao, Chongbo;  Lu, Jiahong
收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05
Clinical correlates of longitudinal MRI changes in CADASIL 期刊论文
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM, 2019, 卷号: 39, 期号: 7
作者:  De Guio, Francois;  Chabriat, Hugues;  Dichgans, Martin;  Godin, Ophelia;  Guichard, Jean Pierre
收藏  |  浏览/下载：22/0  |  提交时间：2019/12/05
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文
CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3
作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05
Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3 ' Untranslated Region Mutation of COL4A1 Gene 期刊论文
STROKE, 2019, 卷号: 50, 期号: 9, 页码: 2307-2313
作者:  Zhao, Yu-Ying;  Duan, Ruo-Nan;  Ji, Lin;  Liu, Qi-Ji;  Yan, Chuan-Zhu
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/11
Abnormal DWI Signals of Spine in a Sporadic Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia caused by a novel c.1907T > A. Mutation in CSF1R 会议论文
NEUROLOGY, 2019-04-09
作者:  Li, Shanglin;  Yao, Ming;  Zhu, Yicheng;  Bin, Peng;  Cui, Liying
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Abnormal DWI Signals of Spine in a Sporadic Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia caused by a novel c.1907T > A. Mutation in CSF1R 期刊论文
2019, 卷号: 92, 期号: 15
作者:  Li, Shanglin;  Yao, Ming;  Zhu, Yicheng;  Bin, Peng;  Cui, Liying
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation 期刊论文
2019, 卷号: 104, 期号: 5, 页码: 925-935
作者:  Guo, Long;  Bertola, Debora Romeo;  Takanohashi, Asako;  Saito, Asuka;  Segawa, Yuko
收藏  |  浏览/下载：19/0  |  提交时间：2020/01/03

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