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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Hengel, Holger; Bauer, Peter; Rieß, Angelika; Krägeloh-Mann, Ingeborg; Schüle, Rebecca; Schöls, Ludger (Nature Publishing Group, 2020)
FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

Lindig, Tobias; Eckstein, Kathrin N.; Wiethoff, Sarah; Reichbauer, Jennifer; Bauer, Peter; Rattay, Tim Wilfried; Söhn, Anne; Döbler-Neumann, Marion; Krägeloh-Mann, Ingeborg; Schöls, Ludger; Schüle, Rebecca (Oxford Univ Press, 2019)
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

Röben, Benjamin; Ruf, Susanne; Bender, Benjamin; Benkert, Tanja; Reich, Selina; Synofzik, Matthis Benjamin; Schüle, Rebecca; Böhringer, Judith; Krägeloh-Mann, Ingeborg; Schöls, Ludger (Bmj Publishing Group, 2018)