Author

Shuan-Pei Lin

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Review Open access Sep 2026

Consensus on gene therapy for spinal muscular atrophy in Taiwan.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by biallelic mutations in the SMN1 gene, leading to progressive motor neuron degeneration, muscle weakness and atrophy due to survival motor neuron (SMN) protein deficiency. The Taiwan Child Neurology Society convened 17 pediatricians with extensi...

Yuh-Jyh Jong, Yin-Hsiu Chien, Wen-Chen Liang et al. · Journal of the Formosan Medi... · 0 citations

Review Open access Aug 2026

From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders

Cardiovascular disease is a leading cause of morbidity and premature mortality in many inherited syndromic and metabolic disorders. However, its cardiac manifestations are often recognized late and are rarely described collectively within a single cohort. We reviewed eight years of outsourced next-generation sequencing...

Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang et al. · International Journal of Mol... · 0 citations

#gene editing Review Open access Sep 2026

Mitochondrial Quality Control in Inherited Mitochondrial Cardiomyopathy: Convergent Pathobiology and a Testable Therapeutic Framework

Inherited mitochondrial cardiomyopathies arise from pathogenic variants affecting oxidative phosphorylation, mitochondrial DNA maintenance, cardiolipin remodeling, protein import, cofactor metabolism, and mitochondrial dynamics or proteostasis. These disorders may be cardiac-predominant or part of multisystem disease....

Chung-Lin Lee, Chih-Kuang Chuang, Ya-Hui Chang et al. · International Journal of Mol... · 0 citations