Rosette A. Jabbour

This paper identifies bi-allelic mutations in KCTD11 as a cause of autosomal recessive intermediate Charcot-Marie-Tooth disease and elucidates its role in myelin homeostasis through molecular mechanisms.

The paper investigates VRK1-related motor neuropathies using hiPSC-MNs and bulk mRNA-Seq, identifying altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation as key pathomechanisms.

The paper investigates hiPSC-derived motor neurons with VRK1 mutations, finding altered action potential waveforms and shorter axonal initial segments, suggesting a link to motor neuron disease.