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Drug Development and Accessibility for Rare Neurological Diseases: Global Landscape, China′s Progress and Future Directions
LIU Ziyue, ZHU Yicheng
2026, 5(2): 121-124. DOI: 10.12376/j.issn.2097-0501.2026.02.001
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Targeted Therapy for Repeat Expansion Diseases
DONG Xinyu, JIANG Hong
2026, 5(2): 125-133. DOI: 10.12376/j.issn.2097-0501.2026.02.002
Abstract PDF
Research Progress on the Heterogeneity of White Matter Hyperintensities in CADASIL on Magnetic Resonance Imaging
FAN Wenjin, YING Yunqing, CHENG Xin
2026, 5(2): 134-142. DOI: 10.12376/j.issn.2097-0501.2026.02.003
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Clinical Research Advances and Future Perspectives in Frontotemporal Dementia
LU Hua, CHU Min, WU Liyong
2026, 5(2): 143-151. DOI: 10.12376/j.issn.2097-0501.2026.02.004
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Advances in the Genetics of Cerebral Small Vessel Disease from the Perspective of Rare Diseases and Their Clinical Implications
LONG Panyao, YANG Pu, YUAN Yi
2026, 5(2): 152-163. DOI: 10.12376/j.issn.2097-0501.2026.02.005
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The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
YU Jiaxi, QUAN Zhihao, ZHENG Yilei, AN Jing, LIU Jing, WANG Qingqing, MENG Lingchao, YU Meng, XIE Zhiying, DENG Jianwen, LYU He, ZHANG Wei, YUAN Yun, WANG Zhaoxia
2026, 5(2): 164-174. DOI: 10.12376/j.issn.2097-0501.2026.02.006
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Correlation Analysis of Rare NOTCH3 Gene Variants and Macrovascular Lesions
WANG You, WANG Yingjie, YAO Ming, ZHU Yicheng
2026, 5(2): 175-183. DOI: 10.12376/j.issn.2097-0501.2026.02.007
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Clinical and Neuroelectrophysiological Characteristics of Split Face Phenomenon in Patients with Amyotrophic Lateral Sclerosis
ZHANG Dong, WANG Wenqing, XU Jingwen, LYU Xiaoqing, ZHAO Yuying, YAN Chuanzhu
2026, 5(2): 184-190. DOI: 10.12376/j.issn.2097-0501.2026.02.008
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Clinical and Neuroelectrophysiological Features of Autoimmune Nodopathy
TAI Hongfei, HUANG Xunyan, NIU Songtao, CHEN Bin, SHI Yuzhi, WANG Xingao, JIAN Fan, PAN Hua, ZHANG Zaiqiang
2026, 5(2): 191-199. DOI: 10.12376/j.issn.2097-0501.2026.02.009
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Analysis of Clinical and Genetic Characteristics of SELENON-Related Myopathy
HUANG Xiaohong, QIAN Min, CHEN Lin, CUI Liying, DAI Yi
2026, 5(2): 200-206. DOI: 10.12376/j.issn.2097-0501.2026.02.010
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From Bedside to Molecular Diagnosis-Multidisciplinary Treatment of a Rare Case of Autoinflammatory Disease Presenting with Skin Induration and Limb Weakness
FU Hanhui, WANG Wenjun, LIU Yaping, YOU Hui, WANG Tao, ZHANG Wen, ZENG Xuejun, CUI Liying, ZHU Huijuan, ZHAO Xiuli, SHEN Min, ZHU Yicheng
2026, 5(2): 207-213. DOI: 10.12376/j.issn.2097-0501.2026.02.011
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Consensus of Multidisciplinary Management on Hereditary Transthyretin Amyloidosis
Rare Disease Branch of Chinese Medical Association, Rare Disease Branch of Beijing Medical Association
2026, 5(2): 214-222. DOI: 10.12376/j.issn.2097-0501.2026.02.012
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Chinese Expert Consensus on Primary Brain Calcification(2026)
ZHAO Miao, LUO Wei, WU Zhiying, CHEN Wanjin
2026, 5(2): 223-230. DOI: 10.12376/j.issn.2097-0501.2026.02.013
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A Case of Neuronal Intranuclear Inclusion Disease with Cyclic Vomiting as the Predominant Manifestation
SANG Hui, LI Fan, WANG Hui, WANG Zhaoxia
2026, 5(2): 231-236. DOI: 10.12376/j.issn.2097-0501.2026.02.014
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A Case of Alacrima-Achalasia-Mental Retardation Syndrome with Dystonia
WANG Yanying, GUO Yi, WANG Lin, WANG Han, SHI Jiayu, WAN Xinhua
2026, 5(2): 237-242. DOI: 10.12376/j.issn.2097-0501.2026.02.015
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Research Progress and Prospects of Primary Pulmonary Lymphoepithelioma-like Carcinoma
WANG Mingzhao, YU Chengqi, WANG Zhijie
2026, 5(2): 243-253. DOI: 10.12376/j.issn.2097-0501.2026.02.016
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The Role of Interferon Signaling Pathway in the Pathogenesis of Juvenile Dermatomyositis
DU Siqi, LIU Wenyue, WU Xinrong, MA Lingyun, TIAN Xinyi, LI Yan
2026, 5(2): 254-262. DOI: 10.12376/j.issn.2097-0501.2026.02.017
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