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PUBLICATIONS

Spinal Muscular Atrophy (SMA)

Risdiplam Impact in Treatment Na ve and Non-Na ve Pediatric and Adult Patients With Spinal Muscular Atrophy (2026)

Respiratory Outcomes of Spinal Muscular Atrophy Patients Receiving Nusinersen in Hong Kong (2025)

Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong (2025)

Nusinersen Initiation After Onset of Weakness Does Not Prevent Progression of Hip Instability (2024)

Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression (2024)

Bone Health Status of Children with Spinal Muscular Atrophy (2023)

Significant healthcare burden and life cost of spinal muscular atrophy: real-world data (2022)

Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions (2021)

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go (2021)

脊髓性肌萎缩症多学科管理专家共识 (2019)

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality (2018)

Spinal Muscular Atrophy With Respiratory Distress Type 1 A Child With Atypical Presentation (2018)

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy (2018)

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy (2017)

Spinal Muscular Atrophy: Survival Pattern and Functional Status (2004)

Duchenne Muscular Dystrophy (DMD)

Optimizing DMD management in Asia: Current challenges and future directions (2025)

抗肌萎缩蛋白病中国诊断指南 - 中华医学杂志 (2024)

Bone microarchitectural alterations in boys with Duchenne muscular dystrophy on long-term glucocorticoid treatment (2021)

Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation (2020)

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania (2020)

Health-related quality of life in Chinese boys with Duchenne muscular dystrophy and their families[中文版] (2019)

X-linked dilated cardiomyopathy with mutation in the 5 splice site intron 1 of Dystrophin gene with Utrophin upregulation (2018)

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database (2017)

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong (2015)

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations (2015)

Other Muscular Dystrophies

Collagen VI Related Muscular Dystrophy (2025)

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T (2025)

Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study (2023)

CHKB-Related Muscular Dystrophy - GeneReviews - NCBI Bookshelf (2023)

Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series (2021)

Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients (2020)

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients (2020)

Congenital muscular dystrophies in China (2019)

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement (2019)

Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy (2014)

Congenital Myopathies

The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes (2020)

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods(2018)

Magnetic Resonance Imaging in mild recessive RYR1 gene-related congenital myopathies: Genetic and histopathological correlation (2017)

Congenital Myasthenic Syndromes

Neuromuscular Junction Acetylcholinesterase Deficiency Responsive to Albuterol (2012)

Genetic Diagnosis of Neuromuscular Disorders

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients (2020)

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service (2019)

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey (2018)

Neuromuscular Disorders and Covid-19

Medium-term immunogenicity of three doses of BNT162b2 and CoronaVac in Hong Kong neuromuscular disease patients (2024)

Hesitancy, reactogenicity and immunogenicity of the mRNA and whole-virus inactivated Covid-19 vaccines in pediatric neuromuscular diseases (2023)

神经肌肉病患儿新型冠状病毒病疫情期间防控及管理建议 - 中华实用儿科临床杂志 (2020)

Immune-mediated Neuromuscular Diseases

Guillain-Barr syndrome in children High occurrence of Miller Fisher syndrome in East Asian region (2022)

Spinal Primitive Neuroectodermal Tumor Mimicking as Chronic Inflammatory Demyelination Polyneuropathy (2014)

Other Neuromuscular Disorders Related Studies

A pilot study of an integrated, personalized, respiratory and motor telerehabilitation program for pediatric patients with hereditary neuromuscular disorders (2023)

Prevalence and healthcare utilization of rare neurological diseases in Hong Kong: 2014 2018 (2021)

The impact of Paediatric neuromuscular disorders on parents health-related quality of life and family functioning (2021)

Deep learning-based thigh muscle segmentation for reproducible fat fraction quantification using fat water decomposition MRI (2020)

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect (2017)