Neuromuscular Junction Acetylcholinesterase Deficiency Responsive to Albuterol

Autor Chan, Sophelia H. S., Wong, Virginia C. N., Engel, Andrew G.
Vydáno v Pediatr Neurol (2012)

Deep learning-based thigh muscle segmentation for reproducible fat fraction quantification using fat–water decomposition MRI

Autor Ding, Jie, Cao, Peng, Chang, Hing-Chiu, Gao, Yuan, Chan, Sophelia Hoi Shan, Vardhanabhuti, Varut
Vydáno v Insights Imaging (2020)

A case report of complement C4B deficiency in a patient with steroid and IVIG-refractory anti-NMDA receptor encephalitis

Autor Chua, Gilbert T., Zhou, Danlei, Ho, Alvin Chi Chung, Chan, Sophelia Hoi Shan, Yu, Chack Yung, Lau, Yu Lung
Vydáno v BMC Neurol (2020)

Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

Autor Chiu, Annie Ting Gee, Chan, Sophelia Hoi Shan, Wu, Shun Ping, Ting, Shun Hin, Chung, Brian Hon Yin, Chan, Angel On Kei, Wong, Virginia Chun Nei
Vydáno v Child Neurol Open (2018)

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

Autor Mak, Christopher CY, Leung, Gordon KC, Mok, Gary TK, Yeung, Kit San, Yang, Wanling, Fung, Cheuk-Wing, Chan, Sophelia HS, Lee, So-Lun, Lee, Ni-Chung, Pfundt, Rolph, Lau, Yu-Lung, Chung, Brian HY
Vydáno v NPJ Genom Med (2018)

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods

Autor Donkervoort, Sandra, Chan, Sophelia H.S., Hayes, Leslie H., Bradley, Nathaniel, Nguyen, David, Leach, Meganne E., Mohassel, Payam, Hu, Ying, Thangarajh, Mathula, Bharucha-Goebel, Diana, Kan, Amanda, Ho, Ronnie S.L., Reyes, Christine A., Nance, Jessica, Moore, Steven A., Foley, A. Reghan, Bönnemann, Carsten G.
Vydáno v Neuromuscul Disord (2017)

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

Autor 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.
Vydáno v Child Neurol Open (2015)

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

Autor Fan, Yanbin, Tan, Dandan, Song, Danyu, Zhang, Xu, Chang, Xingzhi, Wang, Zhaoxia, Zhang, Cheng, Chan, Sophelia Hoi-Shan, Wu, Qixi, Wu, Liwen, Wang, Shuang, Yan, Hui, Ge, Lin, Yang, Haipo, Mao, Bing, Bönnemann, Carsten, Liu, Jingying, Wang, Suxia, Yuan, Yun, Wu, Xiru, Zhang, Hong, Xiong, Hui
Vydáno v J Med Genet (2021)

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

Autor Tsang, Mandy H. Y., Chiu, Annie T. G., Kwong, Bernard M. H., Liang, Rui, Yu, Mullin H. C., Yeung, Kit‐San, Ho, Wetor H. L., Mak, Christopher C. Y., Leung, Gordon K. C., Pei, Steven L. C., Fung, Jasmine L. F., Wong, Virginia C. N., Muntoni, Francesco, Chung, Brian H. Y., Chan, Sophelia H. S.
Vydáno v Mol Genet Genomic Med (2020)

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Autor Ravenscroft, Gianina, Clayton, Joshua S, Faiz, Fathimath, Sivadorai, Padma, Milnes, Di, Cincotta, Rob, Moon, Phillip, Kamien, Ben, Edwards, Matt, Delatycki, Martin, Lamont, Phillipa J, Chan, Sophelia HS, Colley, Alison, Ma, Alan, Collins, Felicity, Hennington, Lucinda, Zhao, Teresa, McGillivray, George, Ghedia, Sondhya, Chao, Katherine, O’Donnell-Luria, Anne, Laing, Nigel G, Davis, Mark R
Vydáno v J Med Genet (2020)

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Autor Yeung, Kit San, Yu, Florrie N. Y., Fung, Cheuk Wing, Wong, Sheila, Lee, Hencher H. C., Fung, Sharon T. H., Fung, Genevieve P. G., Leung, Kwok Yin, Chung, Wai Hang, Lee, Yun Ting, Ng, Vivian K. S., Yu, Mullin H. C., Fung, Jasmine L. F., Tsang, Mandy H. Y., Chan, Kelvin Y. K., Chan, Sophelia H. S., Kan, Anita S. Y., Chung, Brian H. Y.
Vydáno v Mol Genet Genomic Med (2020)

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Autor Bladen, Catherine L, Salgado, David, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Bellgard, Matthew I, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns
Vydáno v Hum Mutat (2015)

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Autor Koeks, Zaïda, Bladen, Catherine L., Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I., Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J., Lochmüller, Hanns
Vydáno v J Neuromuscul Dis (2017)