Mohammed A. AlMuhaizea

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

P. Bauer, S. Arold, A. Bertoli-Avella, 2020, Acta Neuropathologica.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.

Musaad Abukhalid, H. Aldhalaan, Mohammed A. AlMuhaizea, 2023, Neurosciences.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

N. Kaya, R. Basran, M. Al-Owain, 2011, Clinical genetics.