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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 12, 2025. (Total: 235195Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Juvenile Amyotrophic Lateral Sclerosis[original query]
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.
Neurobiology of aging 2013 Apr 34 (4): 1312.e1-8.
Zou Zhang-Yu, Cui Li-Ying, Sun Qing, Li Xiao-Guang, Liu Ming-Sheng, Xu Yan, Zhou Yan, Yang Xun-Z
Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan.
The Chinese journal of physiology 2014 Apr 57 (2): 83-9.
Shen Che-Piao, Lin Wei-Yong, Lin Ting-Fang, Wang Wen-Fu, Tsai Chon-Haw, Hsu Ban-Dar, Huang Chih-Yang, Liu Hsin-Ping, Tsai Fuu-J
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2015 Nov .
Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.
Clinical genetics 2017 Mar .
Liu Z-J, Lin H-X, Liu G-L, Tao Q-Q, Ni W, Xiao B-G, Wu Z
A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis.
Brain and behavior 2018 7 8 (9): e01066.
Ma Limin, Shi Yingying, Chen Zhongcan, Li Shujian, Zhang Jiew
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Neurology. Genetics 2022 7 8 (4): e200009.
Goldstein Orly, Inbar Talya, Kedmi Merav, Gana-Weisz Mali, Abramovich Beatrice, Orr-Urtreger Avi, Drory Vivian
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
Human genomics 2023 3 17 (1): 28.
Li Chunyu, Hou Yanbing, Wei Qianqian, Lin Junyu, Jiang Zheng, Jiang Qirui, Yang Tianmi, Xiao Yi, Huang Jingxuan, Cheng Yangfan, Ou Ruwei, Liu Kuncheng, Chen Xueping, Song Wei, Zhao Bi, Wu Ying, Cao Bei, Chen Yongping, Shang Huifa
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