1. DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family. Issue 12 (20th August 2014) Authors: Zech, Michael; Castrop, Florian; Schormair, Barbara; Jochim, Angela; Wieland, Thomas; Gross, Nadine; Lichtner, Peter; Peters, Annette; Gieger, Christian; Meitinger, Thomas; Strom, Tim M.; Oexle, Konrad; Haslinger, Bernhard; Winkelmann, Juliane Journal: Movement disorders Issue: Volume 29:Issue 12(2014) Page Start: 1504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Issue 8 (5th May 2014) Authors: Platzer, Konrad; Hüning, Irina; Obieglo, Carolin; Schwarzmayr, Thomas; Gabriel, Rainer; Strom, Tim M.; Gillessen‐Kaesbach, Gabriele; Kaiser, Frank J. Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1976 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies. Issue 8 (24th June 2014) Authors: Diodato, Daria; Melchionda, Laura; Haack, Tobias B.; Dallabona, Cristina; Baruffini, Enrico; Donnini, Claudia; Granata, Tiziana; Ragona, Francesca; Balestri, Paolo; Margollicci, Maria; Lamantea, Eleonora; Nasca, Alessia; Powell, Christopher A.; Minczuk, Michal; Strom, Tim M.; Meitinger, Thomas; P... Journal: Human mutation Issue: Volume 35:Issue 8(2014:Aug.) Page Start: 983 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗