1. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
   Raul Juntas Morales et al, 2021, Genes CrossRef
2. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
   Qi Wang et al, 2020, Clinical Genetics CrossRef
3. Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy
   Yun Liu et al, 2024, Human Molecular Genetics CrossRef
4. Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies
   Atif A. Ahmed et al, 2018, American Journal of Medical Genetics Part A CrossRef
5. Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data
   Briana Christophers et al, 2022, Journal of Child Neurology CrossRef