Focal cerebral arteriopathy-inflammatory type in a child – MR diagnosis using vessel wall imaging technique with review of classification and diagnostic evaluation criteria

por Hui, Anselm Wang Hei, Yau, Maggie Lo Yee, Fung, Eva Lai Wah, Chan, Ka Chi, Lai, Billy Ming Hei, Wang, Ki, Chu, Winnie Chiu Wing
Publicado 2023

Deep brain stimulation in a young child with GNAO1 mutation – Feasible and helpful

por Fung, Eva Lai-wah, Mo, Chung-yin, Fung, Sharon Tsui-Hang, Chan, Anne Yin-yan, Lau, Ka-yee, Chan, Emily Kit-ying, Chan, David Yuen-chung, Zhu, Xian-lun, Chan, Danny Tat-ming, Poon, Wai-sang
Publicado 2022

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong

por Chan, Sophelia H. S., Lo, Ivan F. M., Cherk, Sharon W. W., Cheng, Wai Wai, Fung, Eva L. W., Yeung, Wai Lan, Ngan, Mary, Lee, Wing Cheong, Kwong, Ling, Wong, Suet Na, Ma, Che Kwan, Tai, Shuk Mui, Ng, Grace S. F., Wu, Shun Ping, Wong, Virginia C. N.
Publicado 2015

TPI1‐reduced extracellular vesicles mediated by Rab20 downregulation promotes aerobic glycolysis to drive hepatocarcinogenesis

por Liu, Bonnie Hei Man, Tey, Sze Keong, Mao, Xiaowen, Ma, Angel Po Yee, Yeung, Cherlie Lot Sum, Wong, Samuel Wan Ki, Ng, Tung Him, Xu, Yi, Yao, Yue, Fung, Eva Yi Man, Tan, Kel Vin, Khong, Pek‐Lan, Ho, Daniel Wai‐Hung, Ng, Irene Oi‐Lin, Tang, Alexander Hin Ning, Cai, Shao Hang, Yun, Jing Ping, Yam, Judy Wai Ping
Publicado 2021

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

por Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève
Publicado 2015

Exome sequencing in paediatric patients with movement disorders

por Kwong, Anna Ka-Yee, Tsang, Mandy Ho-Yin, Fung, Jasmine Lee-Fong, Mak, Christopher Chun-Yu, Chan, Kate Lok-San, Rodenburg, Richard J. T., Lek, Monkol, Huang, Shushu, Pajusalu, Sander, Yau, Man-Mut, Tsoi, Cheung, Fung, Sharon, Liu, Kam-Tim, Ma, Che-Kwan, Wong, Sheila, Yau, Eric Kin-Cheong, Tai, Shuk-Mui, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Tsung, Li-Yan, Smeitink, Jan, Chung, Brian Hon-Yin, Fung, Cheuk-Wing
Publicado 2021

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

por Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève
Publicado 2019