Hui Xiong (H Xiong)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 21

Top Topics

Fine Needle Aspiration

Muscular Dystrophy

Top Venues

Clinical genetics

Orphanet journal of rare diseases

Neurology. Clinical practice

Scientific reports

This page only lists publications with an associated author ORCID identifier.

Publications

Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen, Hui Xiong
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis. Orphanet journal of rare diseases 18 (1) (2023)
Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen, Hui Xiong
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis. Orphanet journal of rare diseases 18 (1) (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen, Hui Xiong
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis. Orphanet journal of rare diseases 18 (1) (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Cuijie Wei, Zhao Chen, Dandan Tan, Jiang Hong, Nanbert Zhong, Hui Xiong
Reply to: "THAP11 CAG Expansion Beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank". Movement disorders : official journal of the Movement Disorder Society 38 (12) (2023)
Dandan Tan, Cuijie Wei, Zhao Chen, Yu Huang, Jianwen Deng, Jingjing Li, Yidan Liu, Xinhua Bao, Jin Xu, Zhengmao Hu, Suxia Wang, Yanbin Fan, Yizheng Jiang, Ye Wu, Yuan Wu, Shuang Wang, Panyan Liu, Yuehua Zhang, Zhixian Yang, Yuwu Jiang, Hong Zhang, Dao-Jun Hong, Nanbert Zhong, Jiang Hong, Hui Xiong
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Yi-Dan Liu, Shu-Shu Huang, Mei Li, Monkol Lek, Dan-Yu Song, Dan-Dan Tan, Xiao-Yu Chen, Hong Zhang, Jie-Yu Liu, Xing-Zhi Chang, Hui Xiong
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11. Clinical genetics 101 (4) (2022)
Sheng Huang, Yinan Ma, Yu Zhang, Hui Xiong, Xing-Zhi Chang
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in TTN: A case report. Clinical case reports 9 (7) (2021)
Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong, Andrés Nascimento, Lorenzo Maggi, Anna Sarkozy, Soledad Monges, Marta Bertoli, Hirofumi Komaki, Michèle Mayer, Eugenio Mercuri, Edmar Zanoteli, Claudia Castiglioni, Chiara Marini-Bettolo, Adele D'Amico, Nicolas Deconinck, Isabelle Desguerre, Ricardo Erazo-Torricelli, Juliana Gurgel-Giannetti, Akihiko Ishiyama, Karin S Kleinsteuber, Emmanuelle Lagrue, Vincent Laugel, Sandra Mercier, Sonia Messina, Luisa Politano, Monique M Ryan, Pascal Sabouraud, Ulrike Schara, Gabriele Siciliano, Liliana Vercelli, Thomas Voit, Grace Yoon, Rachel Alvarez, Francesco Muntoni, Tyler Mark Pierson, David Gómez-Andrés, A Reghan Foley, Susana Quijano-Roy, Carsten G Bönnemann, Gisèle Bonne
International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain communications 3 (3) (2021)
Huifang Yan, Haoran Ji, Thomas Kubisiak, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Han Xie, Taoyun Ji, Kai Gao, Dongxiao Li, Hui Xiong, Zhen Shi, Ming Li, Yuehua Zhang, Ruoyu Duan, Xinhua Bao, Yuwu Jiang, Margit Burmeister, Jingmin Wang
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing. Journal of human genetics 66 (8) (2021)
Danyu Song, Yi Dai, Xiaoyu Chen, Xiaona Fu, Xingzhi Chang, Ning Wang, Cheng Zhang, Chuanzhu Yan, Hong Zheng, Liwen Wu, Li Jiang, Ying Hua, Haipo Yang, Zhi-Qiang Wang, Tingjun Dai, Wenhua Zhu, Chunxi Han, Yun Yuan, Kazuhiro Kobayashi, Tatsushi Toda, Hui Xiong
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clinical genetics 99 (3) (2021)
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G Bönnemann, Xiru Wu, Hui Xiong
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort. Orphanet journal of rare diseases 16 (1) (2021)
Qi Wang, Zhenxian Hu, Xingzhi Chang, Meng Yu, Zhiying Xie, He Lv, Wei Zhang, Hui Xiong, Yun Yuan, Zhaoxia Wang
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. Clinical genetics 97 (6) (2020)
Yanbin Fan, Dandan Tan, Danyu Song, Xu Zhang, Xingzhi Chang, Zhaoxia Wang, Cheng Zhang, Sophelia Hoi-Shan Chan, Qixi Wu, Liwen Wu, Shuang Wang, Hui Yan, Lin Ge, Haipo Yang, Bing Mao, Carsten Bönnemann, Jingying Liu, Suxia Wang, Yun Yuan, Xiru Wu, Hong Zhang, Hui Xiong
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients. Journal of medical genetics 58 (5) (2020)
Yanbin Fan, Dandan Tan, Xu Zhang, Danyu Song, Xingzhi Chang, Shuang Wang, Hui Yan, Lin Ge, Haipo Yang, Carsten Bönnemann, Jingying Liu, Suxia Wang, Xiru Wu, Hong Zhang, Hui Xiong
Nuclear Factor-κB Pathway Mediates the Molecular Pathogenesis of LMNA-Related Muscular Dystrophies. Biochemical genetics 58 (6) (2020)
Danyu Song, Xiaona Fu, Lin Ge, Xingzhi Chang, Cuijie Wei, Jieyu Liu, Haipo Yang, Suqing Qu, Xinhua Bao, Tatsushi Toda, Xiru Wu, Hui Xiong
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. Clinical genetics 97 (5) (2020)
Lin Ge, Aijie Liu, Kai Gao, Renqian Du, Juan Ding, Bing Mao, Ying Hua, Xiaoli Zhang, Dandan Tan, Haipo Yang, Xiaona Fu, Yanbin Fan, Ling Zhang, Shujuan Song, Jian Wu, Feng Zhang, Yuwu Jiang, Xiru Wu, Hui Xiong
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. Scientific reports 8 (1) (2018)
Y Fan, Aijie Liu, C Wei, H Yang, X Chang, S Wang, Y Yuan, C Bonnemann, Q Wu, X Wu, Hui Xiong
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. Clinical genetics 93 (6) (2018)
Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing. Scientific reports 7 (1) (2017)