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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)
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Reichbauer, Jennifer; Schüle, Rebecca; Synofzik, Matthis Benjamin; Rattay, Tim Wilfried; Söhn, Anne; Schöls, Ludger (Wiley, 2017)
Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Just, Jennifer; Hengel, Holger; Winter, Natalie; Grimm, Alexander; Rattay, Tim Wilfried; Röben, Benjamin; Schüle, Rebecca; Synofzik, Matthis Benjamin; Söhn, Anne; Dammeier, Nele Maria; Schöls, Ludger (Bmc, 2018)