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Annals of Neurology|September 17, 2020
Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System AtrophyLinlin Wan, Zhao Chen, Na Wan, et al.European Journal of Neurology|November 17, 2023
GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degenerationQiong Liu, Juan Chen, Jin Xue, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 1, 2022
[Clinical practice guidelines for Fragile X syndrome]Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Of Medical Genetics Branch Of Chinese Medical Association, Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association, et al.Neurobiology of Aging|February 22, 2020
Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementiasBin Jiao, Lu Zhou, Yafang Zhou, et al.Science Advances|November 23, 2022
Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion diseaseQiong Liu, Kailin Zhang, Yunhee Kang, et al.Ebiomedicine|January 15, 2026
Plasma p-tau species are elevated in presymptomatic and symptomatic neuronal intranuclear inclusion diseaseSizhe Zhang, Bin Jiao, Yan Zeng, et al.Journal of the Peripheral Nervous System : JPNS|September 26, 2023
Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion diseaseYun Tian, Xuan Hou, Wanqian Cao, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 23, 2022
Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion diseaseYun Tian, Lu Zhou, Jing Gao, et al.Pageof 7