[1] |
ZHANG Hui-hong, WAN Pan, DOU Yu-chao, WANG Yan, ZHANG Miao, XU Xiao-lin, ZHOU Yu-ying.
Clinical, genotypic and olfactory characteristics of patients with 11C-PIB-positive cognitive impairment
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2020, 20(5): 448-454.
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[2] |
LI Hai-feng, HUANG Yu, CHEN Xiang-jun.
Establishment of common data element for myasthenia gravis and its significance in the researches of phenotypes
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2020, 20(1): 34-47.
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[3] |
WANG Liang, LI Ya-qin, ZHANG Hui-li, ZHU Yu-ling, HE Ruo-jie, LI Huan, LIN Jin-fu, ZHANG Cheng.
A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2018, 18(8): 595-601.
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[4] |
JI Xin-na, MAO Ying-ying, GAO Zhi-jie, TAN Bo-jing, LI Yun-lin, XU Ke-ming, CHEN Qian, CHEN Shu-hua.
Clinical phenotype and gene mutation of short-chain acyl-coenzyme A dehydrogenase deficiency in a Chinese family
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2018, 18(8): 589-594.
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[5] |
ZHU Yu-ling, LI Huan, PAN Zhi-liang, LIANG Ying-yin, LI Jing, WANG Liang, HE Ruo-jie, LIN Jin-fu, ZHANG Cheng.
Clinical characteristics and MTMR13/SBF2 gene mutation analysis of a Charcot - Marie-Tooth disease type 4B2 Chinese family
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2018, 18(8): 582-588.
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[6] |
ZHANG Hui-li, LI Ze, CHENG Qiu-sheng, CHEN Xi, ZHU Yu-ling, LI Ya-qin, CHEN Meng-long, ZHANG Cheng.
Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2018, 18(7): 514-519.
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[7] |
LI Huan, ZHU Yu-ling, LI Jing, WANG Liang, HE Ruo-jie, LIN Jin-fu, ZHANG Cheng.
Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2018, 18(7): 506-513.
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[8] |
OU Li-yu, SUN Yi-ming, LI Jing, WANG Liang, LI Huan, ZENG Ying, LIANG Ying-yin, ZHANG Cheng.
Limb-girdle muscular dystrophy type 2D: clinical and genetic analysis of a family
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(8): 609-615.
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[9] |
HAO Ying, CHEN Yuan-yuan, ZHANG Jin, MA Hui-zi, GU Wei-hong.
Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(8): 597-602.
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[10] |
HUANG Xiao-jun, LIU Xiao-li, WANG Tian, SHEN Jun-yi, CHEN Sheng-di, TANG Wei-guo, CAO Li.
Clinical phenotype and genetic mutation of fatty acid hydroxylase - associated neurodegeneration: analysis of four cases
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(7): 534-540.
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[11] |
LI Jing, SUN Yi-ming, OU Li-yu, ZHU Yu-ling, WANG Liang, LI Huan, ZHANG Cheng.
Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(7): 526-533.
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[12] |
ZHENG Lan, LIU Xiao-li, CAO Li.
Clinical phenotype and genetic characteristics of ataxia - telangiectasia: four cases report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(7): 519-525.
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[13] |
XIE Kun-ming, GU Wei-hong, HAO Ying, CHEN Yuan-yuan, ZHANG Jin, ZHANG Xin.
Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(7): 513-518.
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[14] |
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Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(7): 507-512.
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[15] |
HUANG Guo-qiang, ZHAI Qiong-xiang, TANG Zhi-hong, WANG Chun, ZHUO Mu-qing, WANG Lin-gan.
Comprehensive analysis of gene mutation and phenotype of tuberous sclerosis complex in China
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2015, 15(4): 322-328.
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