Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
Article in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (April 2024)
The most recent citing publications are shown below. View all 19 publications that cite this research output on Dimensions.
Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions
Preprint in bioRxiv (December 2023)
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
Preprint in bioRxiv (November 2023)