Associated Papers
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Ginsberg M et al.
Journal of Clinical Medicine, 2026
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C et al.
Brain Communications, 2022
36196089 (PubMed )
Supplement: fcac224_supplementary_data.docx
Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.
Avnon T et al.
Journal of Pediatric Genetics, 2020
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