Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Article in Journal of Neuromuscular Diseases (April 2024)
The most recent citing publications are shown below. View all 15 publications that cite this research output on Dimensions.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
Article in Brain (May 2023)
Small fiber involvement is independent from clinical pain in late-onset Pompe disease
Article in Orphanet Journal of Rare Diseases (April 2022)