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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print.
Brain. 2024.
PMID: 38366623
The Skeletal Muscle Emerges as a New Disease Target in Amyotrophic Lateral Sclerosis.
Pikatza-Menoio O, Elicegui A, Bengoetxea X, Naldaiz-Gastesi N, López de Munain A, Gerenu G, Gil-Bea FJ, Alonso-Martín S.
Pikatza-Menoio O, et al.
J Pers Med. 2021 Jul 16;11(7):671. doi: 10.3390/jpm11070671.
J Pers Med. 2021.
PMID: 34357138
Free PMC article.
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