Anita Nikoncuk

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

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Leslie E. Sanderson, Kristina Lanko, Maysoon Alsagob et al. · Brain · 2021 · 52 citations · Full text

Life Sciences, Neurology, Neuroscience +17

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel et al. · The American Journal of Human Genetics · 2020 · 48 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

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

Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk et al. · Acta Neuropathologica · 2023 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17