Author

H. Xiong

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Open access Sep 2026

Mitochondrial defects in the cAMP-PKA-DRP1 pathway in a Crppa deletion model of dystroglycanopathy

It is suggested that CRPPA deficiency is associated with mitochondrial dysfunction involving the cAMP-PKA-DRP1 axis, suggesting a candidate pathway warranting further investigation for DGPs.

Ji-Hang Luo, Yi-Dan Liu, D. Song et al. · Disease Models & Mechanisms · 0 citations

Review Open access Sep 2026

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

Pediatric CMS shows marked genetic heterogeneity and frequent VUS‐related uncertainty and Integrating phenotype, electrophysiology, and genomics supports diagnosis and mechanism‐guided therapy.

Li-Ya Cui, Kai-Yue Ma, Xiao-Na Fu et al. · CNS Neuroscience & Therapeut... · 0 citations