Associated Papers
Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.
Shen Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB2_NHLRC1
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G et al.
Journal of Human Genetics, 2021
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