1. 47 patients with FLNA associated periventricular nodular heterotopia. Issue 1 (December 2015) Authors: Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias; Mueller, Franziska; Sie... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. (March 2014) Authors: Roth, Christian; Freilinger, Tobias; Kirovski, Georgi; Dunkel, Juliane; Shah, Yogesh; Wilken, Bernd; Rautenstrauß, Bernd; Ferbert, Andreas Journal: Cephalalgia Issue: Volume 34:Number 3(2014) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient. (July 2019) Authors: Klein, Christine; Baumann, Hauke; Olschewski, Luisa; Hanssen, Henrike; Münchau, Alexander; Ferbert, Andreas; Brüggemann, Norbert; Lohmann, Katja Journal: Parkinsonism & related disorders Issue: Volume 64(2019) Page Start: 337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Differential diagnosis of vacuolar myopathies in the NGS era. (15th June 2020) Authors: Mair, Dorothea; Biskup, Saskia; Kress, Wolfram; Abicht, Angela; Brück, Wolfgang; Zechel, Sabrina; Knop, Karl Christian; Koenig, Fatima Barbara; Tey, Shelisa; Nikolin, Stefan; Eggermann, Katja; Kurth, Ingo; Ferbert, Andreas; Weis, Joachim Journal: Brain pathology Issue: Volume 30:Number 5(2020) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. (22nd November 2016) Authors: Unger, Andreas; Dekomien, Gabriele; Güttsches, Anne; Dreps, Thomas; Kley, Rudolf; Tegenthoff, Martin; Ferbert, Andreas; Weis, Joachim; Heyer, Christoph; Linke, Wolfgang A.; Martinez-Carrera, Lilian; Storbeck, Markus; Wirth, Brunhilde; Hoffjan, Sabine; Vorgerd, Matthias Journal: Neurology Issue: Volume 87:Number 21(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies. Issue 5 (7th November 2017) Authors: Dohrn, Maike F.; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B.; Claeys, Kristl G.; Gess, Burkhard; Katon... Journal: Journal of neurochemistry Issue: Volume 143:Issue 5(2017) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors. Issue 2 (14th January 2014) Authors: Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schröder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G. Chri... Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Posterior reversible encephalopathy syndrome: long-term follow-up. Issue 7 (1st December 2009) Authors: Roth, Christian; Ferbert, Andreas Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81:Issue 7(2010) Page Start: 773 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. Issue 12 (27th September 2016) Authors: Grütz, Karen; Volpato, Claudia B.; Domingo, Aloysius; Alvarez‐Fischer, Daniel; Gebert, Uwe; Schifferle, Günther; Buffone, Ebba; Wszolek, Zbigniew K.; Rademakers, Rosa; Ferbert, Andreas; Hicks, Andrew A.; Klein, Christine; Pramstaller, Peter P.; Westenberger, Ana Journal: Movement disorders Issue: Volume 31:Issue 12(2016) Page Start: 1901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Risk for Major Bleeding in Patients Receiving Ticagrelor Compared With Aspirin After Transient Ischemic Attack or Acute Ischemic Stroke in the SOCRATES Study (Acute Stroke or Transient Ischemic Attack Treated With Aspirin or Ticagrelor and Patient Outcomes). Issue 10 (5th September 2017) Authors: Easton, J. Donald; Aunes, Maria; Albers, Gregory W.; Amarenco, Pierre; Bokelund-Singh, Sara; Denison, Hans; Evans, Scott R.; Held, Peter; Jahreskog, Marianne; Jonasson, Jenny; Minematsu, Kazuo; Molina, Carlos A.; Wang, Yongjun; Wong, K.S. Lawrence; Johnston, S. Claiborne; Ameriso, Sebastiá F.; Do... Journal: Circulation Issue: Volume 136:Issue 10(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗