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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Wiethoff, Sarah; Martus, Peter; Bauer, Peter; Liepelt, Inga; Schüle-Freyer, Rebecca; Schöls, Ludger; Karle, Kathrin Nora (Wiley - Blackwell, 2016)
Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry

Karle, Kathrin Nora; Schöls, Ludger (Springer Heidelberg, 2016)
A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia

Hedrich, Ulrike B. S.; Schubert, Julian; Synofzik, Matthis Benjamin; Lerche, Holger; Karle, Kathrin Nora; Schöls, Ludger; Schüle-Freyer, Rebecca (Wiley - Blackwell, 2016)

Now showing items 1-3 of 3