1. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
    Shruthi Mohan et al, 2024, Annals of Clinical and Translational Neurology CrossRef
  2. Cytoskeleton | Intermediate Filament Linker Proteins: Plectin and BPAG1
    Gerhard Wiche et al, 2021, Encyclopedia of Biological Chemistry III CrossRef
  3. Muscle-Related Plectinopathies
    Michaela M. Zrelski et al, 2021, Cells CrossRef
  4. Mutation update: The spectra of PLEC sequence variants and related plectinopathies
    Hassan Vahidnezhad et al, 2022, Human Mutation CrossRef
  5. Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy
    Durafshan Sakeena Syed et al, 2024, Mechanism and Genetic Susceptibility of Neurological Disorders CrossRef
  6. Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy
    Jumpei Togawa et al, 2019, Internal Medicine CrossRef
  7. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
    Iker Núñez-Carpintero et al, 2024, Nature Communications CrossRef
  8. Current and Future Approaches to Classify VUSs in LGMD-Related Genes
    Chengcheng Li et al, 2022, Genes CrossRef
  9. Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
    Kun Huang et al, 2022, Journal of Cellular and Molecular Medicine CrossRef