1. A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. Issue 5 (2nd February 2017) Authors: Vill, Katharina; Müller‐Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M.; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas; Haack, Tobias B. Other Names: Silber Michael H. guestEditor.; Iranzo Alex guestEditor. Journal: Movement disorders Issue: Volume 32:Issue 5(2017) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. (19th July 2017) Authors: Feichtinger, René G.; Brunner-Krainz, Michaela; Alhaddad, Bader; Wortmann, Saskia B.; Kovacs-Nagy, Reka; Stojakovic, Tatjana; Erwa, Wolfgang; Resch, Bernhard; Windischhofer, Werner; Verheyen, Sarah; Uhrig, Sabine; Windpassinger, Christian; Locker, Felix; Makowski, Christine; Strom, Tim M.; Meitin... Other Names: Hüttemann Maik Academic Editor. Journal: Oxidative medicine and cellular longevity Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. KMT2B rare missense variants in generalized dystonia. Issue 7 (18th May 2017) Authors: Zech, Michael; Jech, Robert; Havránková, Petra; Fečíková, Anna; Berutti, Riccardo; Urgošík, Dušan; Kemlink, David; Strom, Tim M.; Roth, Jan; Růžička, Evžen; Winkelmann, Juliane Journal: Movement disorders Issue: Volume 32:Issue 7(2017) Page Start: 1087 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities. (29th October 2017) Authors: Zech, Michael; Poustka, Katharina; Boesch, Sylvia; Berutti, Riccardo; Strom, Tim M.; Grisold, Wolfgang; Poewe, Werner; Winkelmann, Juliane Other Names: Yapijakis Christos Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Issue 11 (17th August 2017) Authors: Wambach, Jennifer A.; Stettner, Georg M.; Haack, Tobias B.; Writzl, Karin; Škofljanec, Andreja; Maver, Aleš; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M.; Grange, Dorothy K.; Wilichowski, Ekkehard; Troxel... Journal: Human mutation Issue: Volume 38:Issue 11(2017) Page Start: 1477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗