1. (Invited) Nickel and Nickel-Platinum Silicide for BiCMOS Devices. (8th September 2020) Authors: Wolansky, Dirk; Blaschke, Jean-Paul; Drews, Jürgen; Grabolla, Thomas; Heinemann, Bernd; Lenke, Thomas; Rücker, Holger; Schubert, Markus Andreas; Schulze, Sebastian; Stoll, Heinz-Peter; Zöllner, Marvin; Richter, Uwe; Deyo, Dan Journal: ECS transactions Issue: Volume 98:Number 5(2020) Page Start: 351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. (24th October 2018) Authors: Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André Journal: Human molecular genetics Issue: Volume 28:Number 4(2019) Page Start: 639 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome. (22nd June 2017) Authors: Matilainen, Sanna; Carroll, Christopher J.; Richter, Uwe; Euro, Liliya; Pohjanpelto, Max; Paetau, Anders; Isohanni, Pirjo; Suomalainen, Anu Journal: Human molecular genetics Issue: Volume 26:Number 17(2017:Sep. 01) Page Start: 3352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Splicing Defect in Mitochondrial Seryl‐tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome. Issue 9 (27th June 2016) Authors: Linnankivi, Tarja; Neupane, Nirajan; Richter, Uwe; Isohanni, Pirjo; Tyynismaa, Henna Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 884 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The molecular pathology of pathogenic mitochondrial tRNA variants. Issue 8 (12th February 2021) Authors: Richter, Uwe; McFarland, Robert; Taylor, Robert W.; Pickett, Sarah J. Journal: FEBS letters Issue: Volume 595:Issue 8(2021) Page Start: 1003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis. Issue 8 (28th October 2021) Authors: Ng, Kah Ying; Richter, Uwe; Jackson, Christopher B; Seneca, Sara; Battersby, Brendan J Journal: Human molecular genetics Issue: Volume 31:Issue 8(2022) Page Start: 1230 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. Issue 3 (12th January 2013) Authors: Carroll, Christopher J; Isohanni, Pirjo; Pöyhönen, Rosanna; Euro, Liliya; Richter, Uwe; Brilhante, Virginia; Götz, Alexandra; Lahtinen, Taina; Paetau, Anders; Pihko, Helena; Battersby, Brendan J; Tyynismaa, Henna; Suomalainen, Anu Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗