Associated Papers
NAD+ dyshomeostasis in RYR1-related myopathies.
Lawal TA et al.
Skeletal Muscle, 2025
40846977 (PubMed )
Supplement: 13395_2025_390_MOESM1_ESM.docx
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Lawal TA et al.
Journal of Neuromuscular Diseases, 2021
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ et al.
Journal of Neurology, 2018
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
Blackburn PR et al.
Molecular Genetics & Genomic Medicine, 2017
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