1. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. (April 2022) Authors: Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane; Zech,... Journal: Parkinsonism & related disorders Issue: Volume 97(2022) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Issue 3 (3rd January 2021) Authors: Stenton, Sarah L.; Piekutowska‐Abramczuk, Dorota; Kulterer, Lea; Kopajtich, Robert; Claeys, Kristl G.; Ciara, Elżbieta; Eisen, Johannes; Płoski, Rafał; Pronicka, Ewa; Malczyk, Katarzyna; Wagner, Matias; Wortmann, Saskia B.; Prokisch, Holger Journal: Human mutation Issue: Volume 42:Issue 3(2021) Page Start: 310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013) Authors: Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013) Authors: Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing. Issue 10 (18th June 2019) Authors: Saoura, Makenzie; Powell, Christopher A.; Kopajtich, Robert; Alahmad, Ahmad; AL‐Balool, Haya H.; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L.; Bertini, Enrico; Bonnen, Penelope E.; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A.; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Am... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1731 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Issue 18 (5th May 2022) Authors: Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Aw... Journal: Human molecular genetics Issue: Volume 31:Issue 18(2022) Page Start: 3083 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The diagnosis of inborn errors of metabolism by an integrative "multi‐omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics. Issue 1 (25th June 2019) Authors: Stenton, Sarah L.; Kremer, Laura S.; Kopajtich, Robert; Ludwig, Christina; Prokisch, Holger Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 1(2020) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. Issue 2 (20th January 2022) Authors: Zech, Michael; Kopajtich, Robert; Steinbrücker, Katja; Bris, Céline; Gueguen, Naig; Feichtinger, René G.; Achleitner, Melanie T.; Duzkale, Neslihan; Périvier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; N... Journal: Annals of neurology Issue: Volume 91:Issue 2(2022) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗