1. GBA‐associated parkinsonism and dementia: beyond α‐synucleinopathies?. (9th November 2015) Authors: Pilotto, A.; Schulte, C.; Hauser, A. K.; Biskup, S.; Munz, M.; Brockmann, K.; Schaeffer, E.; Synofzik, M.; Maetzler, W.; Suenkel, U.; Srulijes, K.; Gasser, T.; Berg, D. Journal: European journal of neurology Issue: Volume 23:Number 3(2016:Mar.) Page Start: 520 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. (15th April 2018) Authors: Rydning, S. L.; Dudesek, A.; Rimmele, F.; Funke, C.; Krüger, S.; Biskup, S.; Vigeland, M. D.; Hjorthaug, H. S.; Sejersted, Y.; Tallaksen, C.; Selmer, K. K.; Kamm, C. Journal: European journal of neurology Issue: Volume 25:Number 7(2018) Page Start: 943 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P063 Ultra deep panel-based NGS of cancer-relevant genes as treatment decision support. (March 2015) Authors: Döcker, D.; Menzel, M.; Armeanu-Ebinger, S.; Rinckleb, A.; Biskup, S. Journal: Breast Issue: Volume 24(2015)Supplement 1 Page Start: S48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. (18th December 2014) Authors: Gadzicki, D.; Döcker, D.; Schubach, M.; Menzel, M.; Schmorl, B.; Stellmer, F.; Biskup, S.; Bartholdi, D. Journal: Clinical genetics Issue: Volume 88:Number 3(2015:Sep.) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function. Issue 8 (August 2015) Authors: Hedrich, U.B.S.; Syrbe, S.; Riesch, E.; Djémié, T.; Müller, S.; Møller, R.S.; Maher, B.; Hernandez-Hernandez, L.; Synofzik, M.; Caglayan, H.S.; Arslan, M.; Serratosa, J.; Gonzalez, M.; Züchner, S.; Palotie, A.; Suls, A.; De Jonghe, P.; Helbig, I.; Biskup, S.; Wolff, M. Journal: Clinical neurophysiology Issue: Volume 126:Issue 8(2015:Aug.) Page Start: e80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. P44. Facial onset sensory motor neuronopathy (FOSMN) syndrome – Evidence for an oligogenic entity, though no evidence of a genetic link to ALS. Issue 8 (August 2015) Authors: Prudlo, J.; Bürmann, J.; Weis, J.; Biskup, S.; Krüger, S.; Dillmann, U. Journal: Clinical neurophysiology Issue: Volume 126:Issue 8(2015:Aug.) Page Start: e117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. P 44 Brisk jerk reflexes in a CMT case – novel heterozygous variant c.785T>C; p.Leu262Pro in KIF5A explaining the mixed phenotype. Issue 10 (October 2017) Authors: Dohrn, M.F.; Glöckle, N.; Mulahasanovic, L.; Sprecher, A.; Biskup, S.; Claeys, K.G.; Schulz, J.B.; Gess, B. Journal: Clinical neurophysiology Issue: Volume 128:Issue 10(2017:Oct.) Page Start: e352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A new case of UDP‐galactose transporter deficiency (SLC35A2‐CDG): molecular basis, clinical phenotype, and therapeutic approach. Issue 5 (17th March 2015) Authors: Dörre, K.; Olczak, M.; Wada, Y.; Sosicka, P.; Grüneberg, M.; Reunert, J.; Kurlemann, G.; Fiedler, B.; Biskup, S.; Hörtnagel, K.; Rust, S.; Marquardt, T. Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗