Charlotte Sophia Kaiser

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Molecular Neuroscience, Mendelian Disorder, Biallelic Variants +11

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Cécile Mignon‐Ravix, Mathieu Milh, Charlotte Sophia Kaiser et al. · Human Mutation · 2018 · 46 citations

Uba5 Protein, Genetics, Disease Gene Identification +18

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Murtadha L. Al‐Saady, Charlotte Sophia Kaiser, Felipe Wakasuqui et al. · Neuropediatrics · 2021 · 15 citations · Full text

Using Caenorhabditis elegans to produce functional secretory proteins of parasitic nematodes

Milena Lubisch, Sven Moyzio, Charlotte Sophia Kaiser et al. · Acta Tropica · 2021 · 10 citations