Associated Papers
NAD+ dyshomeostasis in RYR1-related myopathies.
Lawal TA et al.
Skeletal Muscle, 2025
40846977 (PubMed )
Supplement: 13395_2025_390_MOESM1_ESM.docx
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Summa S et al.
Scientific Reports, 2023
36697461 (PubMed )
Supplement: 41598_2023_28405_MOESM1_ESM.pdf
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_1
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Lawal TA et al.
Journal of Neuromuscular Diseases, 2021
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A et al.
Acta Neuropathologica, 2020
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ et al.
Journal of Neurology, 2018
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
Maggi L et al.
Neuromuscular Disorders : Nmd, 2013
[Malignant hyperthermia--a hereditary and potentially life-threatening condition].
Haugen T et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 2005
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