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Author

G. Haliloglu

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Review Aug 2026

Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort.

The results highlight the major contribution of a limited number of genes and underscore the importance of early molecular diagnosis in a population with high consanguinity and underscore the importance of early molecular diagnosis in a population with high consanguinity.

Canan Üstün, Ipek Polat, Gülten Öztürk et al. · 0 citations
Open access Aug 2026

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.

D. Muhmann, G. Haliloglu, M. A. Grimalt et al. · 0 citations

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