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Annals of Clinical and Translational Neurology|October 7, 2025
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein InsightsNuria Muelas, Pablo Iruzubieta, Alberto Damborenea, et al.
Brain : a Journal of Neurology|February 17, 2024
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like featuresPablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen, et al.
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