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Sophelia Hoi-Shan Chan
Sophelia Hoi-Shan Chan
Verified email at hku.hk - Homepage
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Cited by
Cited by
Year
Nusinersen versus sham control in infantile-onset spinal muscular atrophy
RS Finkel, E Mercuri, BT Darras, AM Connolly, NL Kuntz, J Kirschner, ...
New England Journal of Medicine 377 (18), 1723-1732, 2017
19912017
Nusinersen versus sham control in later-onset spinal muscular atrophy
E Mercuri, BT Darras, CA Chiriboga, JW Day, C Campbell, AM Connolly, ...
New England Journal of Medicine 378 (7), 625-635, 2018
12432018
The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ...
Human mutation 36 (4), 395-402, 2015
7062015
Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ...
Journal of neuromuscular diseases 4 (4), 293-306, 2017
1612017
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
T Dangouloff, E Vrščaj, L Servais, D Osredkar, T Adoukonou, O Aryani, ...
Neuromuscular Disorders 31 (6), 574-582, 2021
1382021
Severity of SARS-CoV-2 Omicron BA. 2 infection in unvaccinated hospitalized children: comparison to influenza and parainfluenza infections
WWY Tso, MYW Kwan, YL Wang, LK Leung, D Leung, GT Chua, P Ip, ...
Emerging microbes & infections 11 (1), 1742-1750, 2022
552022
Neuroimpairment, activity limitation, and participation restriction among children with cerebral palsy in Hong Kong
HSS Chan, PHB Lau, KH Fong, D Poon, CCC Lam
Hong Kong Medical Journal 11 (5), 342, 2005
552005
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect
F Baertling, L Sanchez‐Caballero, MAM van den Brand, CW Fung, ...
Clinical genetics 93 (1), 111-118, 2018
542018
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy
SHS Chan, AR Foley, R Phadke, AA Mathew, M Pitt, C Sewry, F Muntoni
Neuromuscular Disorders 24 (8), 677-683, 2014
542014
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
G Ravenscroft, JS Clayton, F Faiz, P Sivadorai, D Milnes, R Cincotta, ...
Journal of medical genetics 58 (9), 609-618, 2021
532021
Selective dorsal rhizotomy in Hong Kong: multidimensional outcome measures
SH Chan, KY Yam, BP Yiu-Lau, CY Poon, NN Chan, HM Cheung, M Wu, ...
Pediatric neurology 39 (1), 22-32, 2008
512008
Prevalence study of cerebral palsy in Hong Kong children
K Tsui, B Yiu, C Cheng, C Chan
Hong Kong Med J 12 (3), 180-4, 2006
492006
Deep learning-based thigh muscle segmentation for reproducible fat fraction quantification using fat–water decomposition MRI
J Ding, P Cao, HC Chang, Y Gao, SHS Chan, V Vardhanabhuti
Insights into imaging 11, 1-11, 2020
402020
Anti-N-methyl-d-aspartate receptor encephalitis in children: incidence and experience in Hong Kong
AC Ho, SH Chan, E Chan, SS Wong, ST Fung, SW Cherk, EL Fung, K Ma, ...
Brain and Development 40 (6), 473-479, 2018
402018
Panel-based exome sequencing for neuromuscular disorders as a diagnostic service
D Westra, MI Schouten, BC Stunnenberg, B Kusters, CGJ Saris, ...
Journal of neuromuscular diseases 6 (2), 241-258, 2019
392019
Congenital muscular dystrophies in China
L Ge, C Zhang, Z Wang, SHS Chan, W Zhu, C Han, X Zhang, H Zheng, ...
Clinical Genetics 96 (3), 207-215, 2019
372019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
S Donkervoort, R Sabouny, P Yun, L Gauquelin, KR Chao, Y Hu, ...
Acta neuropathologica 138, 1013-1031, 2019
322019
Mental health & maltreatment risk of children with special educational needs during COVID-19
WWY Tso, KL Chan, TMC Lee, N Rao, SL Lee, F Jiang, SHS Chan, ...
Child abuse & neglect 130, 105457, 2022
312022
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol
SHS Chan, VCN Wong, AG Engel
Pediatric neurology 47 (2), 137-140, 2012
312012
Anti-NMDA receptor encephalitis with atypical brain changes on MRI
SHS Chan, VCN Wong, C Fung, RC Dale, A Vincent
Pediatric neurology 43 (4), 274-278, 2010
292010
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