| [1] |
Li LIN, Zhen-zhen CUI, Fan HE, Xiao-ling ZHAO, Dan-qun JIN, Bin YANG.
Analysis of genetic characteristics in four children with atypical Rett syndrome and developmental epileptic encephalopathy caused by IQSEC2 gene variation
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2024, 24(8): 674-683.
|
| [2] |
Yu-qing YUAN, Qing-qing ZHAN, Liang XIE.
Type Ⅱ Alexander's disease: one case report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2024, 24(6): 502-506.
|
| [3] |
Pin-fei NI, Si-yuan FAN, Jia LI, Hui YOU, Da-chun ZHAO, Hai-tao REN, Hong-zhi GUAN.
Central nervous system aspergillosis
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2024, 24(4): 258-264.
|
| [4] |
Qian WU, Fei-xia ZHAN, Li CAO.
Dopa-responsive dystonia caused by TH gene variations: two cases report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2024, 24(4): 285-289.
|
| [5] |
Ying XU, Ya-xing GUI.
The influence of dysregulated lipid metabolism on the progression of Parkinson's disease and its clinical implications
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2024, 24(3): 131-138.
|
| [6] |
Yu-jing YUAN, Chang LIU, Zhi-ying XIE, Ya-wen ZHAO, Ling-chao MENG, He LÜ, Zhao-xia WANG, Yun YUAN, Wei ZHANG.
Analysis of clinical and histopathology characteristics of asymptomatic and pauci-symptomatic hyperCKemia
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 782-788.
|
| [7] |
Xin-yu ZHANG, Ya-wen ZHAO, Wei ZHANG, Zhao-xia WANG, Yun YUAN.
Analysis of clinical and pathological characteristics of scleromyositis patients with positive anti-Ku or anti-PM-Scl antibodies
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 789-797.
|
| [8] |
Jia-xi YU, Meng YU, Wei ZHANG, Yun YUAN, Jian-wen DENG, Zhao-xia WANG.
Oculopharyngodistal myopathy caused by CGG repeat expansion in 5'untranslated region of LRP12 gene: four cases report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 798-806.
|
| [9] |
Ying LI, Xue-liang QI, Wei ZHANG, Li-qun FENG, Guang-zhi LIU, Yun YUAN.
Hereditary myopathy with early respiratory failure in China: one case report and literatures review
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 813-820.
|
| [10] |
Hui WANG, Meng YU, He LÜ, Wei ZHANG, Yun YUAN, Zhao-xia WANG.
Mitochondrial myopathy presenting as acute respiratory failure: one case report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 821-825.
|
| [11] |
Ping LI, Yan-fang XU, Shuai HU, Xiao-xia ZENG, Xue-liang QI.
Phosphoserine aminotransferase deficiency in childhood ichthyosis with adolescent peripheral neuropathy caused by PSAT1 gene mutation: one case report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 826-831.
|
| [12] |
Ran LI, Hui-min ZOU, Chun-ye XING, Jin SONG, Yan-lei HAO.
Limb-girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 832-837.
|
| [13] |
Hai-jiang LI, Chao-dong WANG.
A pedigree of early-onset familial Alzheimer's disease type 3 with spastic paraplegia as the primary manifestation
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 853-858.
|
| [14] |
Xiao-li MA, Jia-jie TONG, Xiu-zhi ZHANG, Qian DU, Ai-xia SUI, Huan-fen ZHAO.
Xanthomatous hypophysitis behaving like pituitary adenoma
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(7): 599-603.
|
| [15] |
Yue-wen LI, Xian-zhou CHU, Juan LI, Yan QIN, Tong WU, Xian-wen CHEN.
Distal hereditary motor neuropathy type Ⅴ caused by mutation of c.455A > G in BSCL2 gene: a family report
[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(7): 643-647.
|