NeuroscienceBiochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePeer-reviewed
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome 22 and Prader Willi Syndrome
Kritika Bhalla, Karen Rosier, Yenthe Monnens…·John W.M. Creemers
This study identifies shared metabolic pathways between CMS22 and PWS, showing mitochondrial dysfunction and potential therapeutic targets through PREPL.