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Retrospective on Establishing Rare Diseases Medical Service System and Research Platform in China
ZHU Yicheng, ZHANG Shuyang
2022, 1(2): 93-96. DOI: 10.12376/j.issn.2097-0501.2022.02.001
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The Progression and Problems in Diagnosis and Treatment of Rare Neurological Diseases
LIU Mingsheng, CUI Liying
2022, 1(2): 97-100. DOI: 10.12376/j.issn.2097-0501.2022.02.002
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Artificial Intelligence Supports Research Progress in the Diagnosis and Treatment of Rare Diseases
GONG Mengchun, JIAO Yuanshi, MA Wuren, LIU Peng, JIN Ye, HU Jifa, NIU Ling, SHI Wenzhao, ZHANG Shuyang
2022, 1(2): 101-109. DOI: 10.12376/j.issn.2097-0501.2022.02.003
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Congenital Myasthenic Syndrome
WANG Wenqing, ZHAO Yuying, YAN Chuanzhu
2022, 1(2): 110-121. DOI: 10.12376/j.issn.2097-0501.2022.02.004
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Anti-Leucine-Rich Glioma-Inactivated 1 Encephalitis: A Single-Center Cohort Study in China
FAN Siyuan, REN Haitao, LIN Nan, LU Qiang, JIN Liri, HUANG Yan, HOU Bo, YOU Hui, FENG Feng, CUI Ruixue, ZHU Yicheng, GUAN Hongzhi, CUI Liying
2022, 1(2): 122-129. DOI: 10.12376/j.issn.2097-0501.2022.02.005
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Clinical and Genetic Analysis of Adrenoleukodystrophy in Adults
WANG Mengwen, WU Chujun, ZHANG Zaiqiang
2022, 1(2): 130-136. DOI: 10.12376/j.issn.2097-0501.2022.02.006
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Clinical Features of Multicenter Autoimmune Glial Fibrillary Acidic Protein Astrocytosis
ZHENG Xiujun, LIN Qi, SHU Yaqing, SUN Xiaobo, ZHONG Xiaonan, LI Rui, CHANG Yanyu, QIU Wei, WANG Yuge
2022, 1(2): 137-141. DOI: 10.12376/j.issn.2097-0501.2022.02.007
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Rare Variants of Monogenic Cerebral Small Vessel Diseases -Related Genes: A Study in a Cohort of Patients with Cerebral Small Vessel Diseases
WAN Mengyao, LIU Jingyi, ZHU Yicheng, ZHOU Lixin, NI Jun, PENG Bin, YAO Ming
2022, 1(2): 142-150. DOI: 10.12376/j.issn.2097-0501.2022.02.008
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An Adolescent with Recurrent Intracranial Hemorrhage, and Skin Lesion
HONG Yuehui, SHEN Min, WANG Tao, MA Mingsheng, ZHAO Sen, FENG Feng, ZHAO Dachun, ZHANG Wen, ZENG Xuejun, XUAN Lei, YAO Ming, ZHU Yicheng
2022, 1(2): 151-157. DOI: 10.12376/j.issn.2097-0501.2022.02.009
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Expert Consensus on the Application of Multiple criteria Decision Analysis in Comprehensive Clinical Evaluation of Orphan Drugs(2022)
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital, China Alliance for Rare Diseases
2022, 1(2): 158-177. DOI: 10.12376/j.issn.2097-0501.2022.02.010
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A Case of Localized Amyloidosis of the Brachial Plexus
SUN Chong, LIN Jie, ZHENG Yongsheng, LIU Bingyou, CHEN Lin, BAO Yifang, ZHAO Chongbo
2022, 1(2): 178-182. DOI: 10.12376/j.issn.2097-0501.2022.02.011
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The Case Report on Dentatorubral-Pallidoluysian Atrophy
LUO Sai, JIANG Hong
2022, 1(2): 183-188. DOI: 10.12376/j.issn.2097-0501.2022.02.012
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O'Sullivan-McLeod Syndrome: A Case Report
WANG Yu, WANG Suyue, JIN Ping, ZHU Yulong, XIA Kun, SUN Dandan, AI Wenlong, FU Xiaoming, YE Qunrong, LI Kai, WANG Xun
2022, 1(2): 189-195. DOI: 10.12376/j.issn.2097-0501.2022.02.013
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A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy
SHA Yuhui, ZHANG Junyi, NI Jun
2022, 1(2): 196-198. DOI: 10.12376/j.issn.2097-0501.2022.02.014
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Progress in the Treatment of Antisense Oligonucleotides in Duchenne Muscular Dystrophy
XU Tingting, ZUO Wei, LIU Xin, FAN Qianqian, GAO Yang, LIANG Chunsu, ZHANG Bo
2022, 1(2): 199-205. DOI: 10.12376/j.issn.2097-0501.2022.02.015
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Advances in the Diagnosis and Treatment of Multiple System Atrophy
ZHANG Lingyu, SHANG Huifang
2022, 1(2): 206-216. DOI: 10.12376/j.issn.2097-0501.2022.02.016
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Research Progress in Antibodies Related to Autoimmune Encephalitis in Neuropsychiatric Systemic Lupus Erythematosus
CHEN Sixian, REN Haitao, ZENG Xiaofeng, GUAN Hongzhi
2022, 1(2): 217-222. DOI: 10.12376/j.issn.2097-0501.2022.02.017
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Research Development in Patients with Multiple Sclerosis by Focus on MRI
ZHENG Qiao, ZHU Qiyuan, LI Yongmei
2022, 1(2): 223-228. DOI: 10.12376/j.issn.2097-0501.2022.02.018
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