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Jiaxi Yu

Showing results (31-40 of 48) with videos related to

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European Journal of Neurology|October 20, 2022
Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathyDaojun Hong, Hui Wang, Min Zhu, et al.
Journal of Clinical Laboratory Analysis|November 16, 2023
Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophyZhiying Xie, Yunlong Lu, Chang Liu, et al.
Molecular Neurobiology|September 28, 2022
FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALSBinbin Zhou, Yilei Zheng, Xiaobing Li, et al.
Muscle & Nerve|July 24, 2024
Clinical and pathological characteristics of OPDM4 patients in advanced diseaseHaixia Tang, Ying Xiong, Kaiyan Jiang, et al.
Molecular Genetics & Genomic Medicine|March 31, 2023
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathyYalan Wan, Qi Wang, Yiming Zheng, et al.
Journal of Medical Genetics|November 3, 2023
Non-coding CGG repeat expansion in <i>LOC642361/NUTM2B-AS1</i> is associated with a phenotype of oculopharyngodistal myopathyXinyu Gu, Jiaxi Yu, Kexin Jiao, et al.
Journal of Medical Genetics|March 26, 2021
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion diseaseJianwen Deng, Binbin Zhou, Jiaxi Yu, et al.
Journal of Neurology|November 2, 2022
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variantsZhiying Xie, Chengyue Sun, Chang Liu, et al.
Frontiers in Molecular Neuroscience|October 31, 2022
Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutationXujun Chu, Mengdie Wang, Ran Tang, et al.
Journal of Medical Genetics|August 16, 2019
Long-read sequencing identified repeat expansions in the 5'UTR of the <i>NOTCH2NLC</i> gene from Chinese patients with neuronal intranuclear inclusion diseaseJianwen Deng, Muliang Gu, Yu Miao, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
European Journal of Neurology|October 20, 2022
Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathyDaojun Hong, Hui Wang, Min Zhu, et al.
Journal of Clinical Laboratory Analysis|November 16, 2023
Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophyZhiying Xie, Yunlong Lu, Chang Liu, et al.
Molecular Neurobiology|September 28, 2022
FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALSBinbin Zhou, Yilei Zheng, Xiaobing Li, et al.
Muscle & Nerve|July 24, 2024
Clinical and pathological characteristics of OPDM4 patients in advanced diseaseHaixia Tang, Ying Xiong, Kaiyan Jiang, et al.
Molecular Genetics & Genomic Medicine|March 31, 2023
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathyYalan Wan, Qi Wang, Yiming Zheng, et al.
Journal of Medical Genetics|November 3, 2023
Non-coding CGG repeat expansion in <i>LOC642361/NUTM2B-AS1</i> is associated with a phenotype of oculopharyngodistal myopathyXinyu Gu, Jiaxi Yu, Kexin Jiao, et al.
Journal of Medical Genetics|March 26, 2021
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion diseaseJianwen Deng, Binbin Zhou, Jiaxi Yu, et al.
Journal of Neurology|November 2, 2022
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variantsZhiying Xie, Chengyue Sun, Chang Liu, et al.
Frontiers in Molecular Neuroscience|October 31, 2022
Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutationXujun Chu, Mengdie Wang, Ran Tang, et al.
Journal of Medical Genetics|August 16, 2019
Long-read sequencing identified repeat expansions in the 5'UTR of the <i>NOTCH2NLC</i> gene from Chinese patients with neuronal intranuclear inclusion diseaseJianwen Deng, Muliang Gu, Yu Miao, et al.
Pageof 5