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Number of items: 5.

Journal Article

Basu, Swaraj, Xie, Xie, Uhler, Jay P., Hedberg-Oldfors, Carola, Milenkovic, Dusanka, Baris, Olivier R., Kimoloi, Sammy, Matic, Stanka, Stewart, James B., Larsson, Nils-Goran ORCID: 0000-0001-5100-996X, Wiesner, Rudolf J., Oldfors, Anders, Gustafsson, Claes M., Falkenberg, Maria and Larsson, Erik (2020). Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing. PLoS Genet., 16 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E. S., Macao, Bertil, Schober, Florian A., Lesko, Nicole, Wibom, Rolf, Naess, Karin ORCID: 0000-0003-4310-7927, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph ORCID: 0000-0003-0418-1673, Falkenberg, Maria and Wredenberg, Anna ORCID: 0000-0002-2500-6121 (2017). A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma. Hum. Mol. Genet., 26 (13). S. 2515 - 2526. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Silva-Pinheiro, Pedro ORCID: 0000-0002-0872-5749, Pardo-Hernandez, Carlos, Reyes, Aurelio ORCID: 0000-0003-2876-2202, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian ORCID: 0000-0001-5153-8431, Dogan, Sukru A., Peter, Bradley, Fernandez-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal ORCID: 0000-0001-8242-1420, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo ORCID: 0000-0002-9067-5508, Falkenberg, Maria and Viscomi, Carlo ORCID: 0000-0001-6050-0566 (2021). DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Nucleic Acids Res., 49 (9). S. 5230 - 5249. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Silva-Pinheiro, Pedro ORCID: 0000-0002-0872-5749, Pardo-Hernandez, Carlos, Reyes, Aurelio ORCID: 0000-0003-2876-2202, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian ORCID: 0000-0001-5153-8431, Dogan, Sukru A., Peter, Bradley, Fernandez-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal ORCID: 0000-0001-8242-1420, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo, Falkenberg, Maria and Viscomi, Carlo ORCID: 0000-0001-6050-0566 (2021). DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion (vol 49, pg 5230, 2021). Nucleic Acids Res., 49 (18). S. 10803 - 10804. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Zhu, Xuefeng, Xie, Xie, Das, Hrishikesh, Tan, Benedict G., Shi, Yonghong, Al-Behadili, Ali, Peter, Bradley, Motori, Elisa ORCID: 0000-0001-5997-6866, Valenzuela, Sebastian, Posse, Viktor, Gustafsson, Claes M., Haellberg, B. Martin and Falkenberg, Maria (2022). Non-coding 7S RNA inhibits transcription via mitochondrial RNA polymerase dimerization. Cell, 185 (13). S. 2309 - 2349. CAMBRIDGE: CELL PRESS. ISSN 1097-4172

This list was generated on Wed May 29 00:29:36 2024 CEST.