Neuromuscular Junction Acetylcholinesterase Deficiency Responsive to Albuterol

অনুযায়ী Chan, Sophelia H. S., Wong, Virginia C. N., Engel, Andrew G.
প্রকাশিত Pediatr Neurol (2012)

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

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

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

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

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

অনুযায়ী 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
প্রকাশিত Child Neurol Open (2018)

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

অনুযায়ী 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
প্রকাশিত NPJ Genom Med (2018)

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

অনুযায়ী 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.
প্রকাশিত Neuromuscul Disord (2017)

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

অনুযায়ী 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.
প্রকাশিত Child Neurol Open (2015)

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

অনুযায়ী 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
প্রকাশিত J Med Genet (2021)

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

অনুযায়ী 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.
প্রকাশিত Mol Genet Genomic Med (2020)

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

অনুযায়ী 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
প্রকাশিত 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

অনুযায়ী 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.
প্রকাশিত Mol Genet Genomic Med (2020)

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

অনুযায়ী 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
প্রকাশিত Hum Mutat (2015)

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

অনুযায়ী 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
প্রকাশিত J Neuromuscul Dis (2017)