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Showing results 1 to 10 of 10

	Title	Author(s)	Issue Date
	A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality Journal:Neuromuscular Disorders	Chan, HSS Van Alfen, N Thuestad, IJ Ip, J Chan, AOK MAK, CCY Chung, BHY Aad, VERRIPS Erik-Jan, KAMSTEEG	2018
	COLLAGEN VI-RELATED MYOPATHIES: CLINICAL VARIABILITY, PHENOTYPE-GENOTYPE CORRELATION AND EXPLORATORY TRANSCRIPTOME STUDY Journal:Neuromuscular Disorders	Kwong, KY ZHANG, Y Ho, SLR Gao, Y XU, L TSANG, HY Luk, HM Chung, BHY Bonnemann, CG Javed, A Chan, HSS	2023
	Congenital myopathies: characteristic and subtypes in Hong Kong Proceeding/Conference:Neuromuscular Disorders	Chan, HSS Ho, RSL Chan, AOK Ip, JJK Wong, S Ng, GSF Lee, HCH Cheng, Y Liu, KT Lee, CN Fung, STH Cherk, SWW Chan, TSK Lam, WMW Shek, WH Wong, VCN	2015
	Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rod histology Proceeding/Conference:Neuromuscular Disorders	Donkervoort, S Chan, HSS Bradley, N Foley, A Nguyen, D Hu, Y Leach, M Thangarajh, M Reyes, C Nance, J Moore, S Bönnemann, C	2015
	Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods Journal:Neuromuscular Disorders	Donkervoort, S Chan, HSS Hayes, LH Bradley, N Nguyen, D Leach, ME Mohassel, P Hu, Y Thangarajh, M Bharucha-Goebel, D Kan, A Ho, RSL Reyes, CA Nance, J Moore, SA Foley, AR Bonnemann, CG	2017
	Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy Journal:Neuromuscular Disorders	Chan, Sophelia H S Foley, A. Reghan Phadke, Rahul Mathew, Ann Agnes Pitt, Matthew Sewry, Caroline Muntoni, Francesco	2014
	Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients Journal:Neuromuscular Disorders	Chan, HSS Ho, RSL Khong, PL Chung, BHY TSANG, MHY YU, MHC Yeung, MCY Chan, AOK Fung, CW	2020
	Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go Journal:Neuromuscular Disorders	Dangouloff, T Vrščaj, E Servais, L Osredkar, D SMA NBS World Study Group Chan, S	2021
	Patient-derived induced pluripotent stem cells differentiated cardiomyocytes as platform for disease modeling for X-linked dilated cardiomyopathy Proceeding/Conference:Neuromuscular Disorders	Zhu, S Deng, MR Law, HY Poon, E Lo, J Liang, R Kwong, AKY Ng, K Tse, H Chan, GCF Chan, HSS	2020
	Peripheral neuropathy: a novel finding in dyskeratosis congenital Proceeding/Conference:Neuromuscular Disorders	Ip, P Knight, R Dokal, I Manzur, AY Muntoni, F	2005

Showing results 1 to 10 of 10