1. A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder. (February 2017) Authors: Garone, Caterina; Gurgel-Giannetti, Juliana; Sanna-Cherchi, Simone; Krishna, Sindu; Naini, Ali; Quinzii, Catarina M.; Hirano, Michio Journal: Journal of child neurology Issue: Volume 32:Number 2(2017:Feb.) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. (25th August 2017) Authors: Garone, Caterina; D'Souza, Aaron R; Dallabona, Cristina; Lodi, Tiziana; Rebelo-Guiomar, Pedro; Rorbach, Joanna; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah E; Mootha, Vamsi K; DiMauro, Salvatore; Ferrero, Ileana; Minczuk, Michal Journal: Human molecular genetics Issue: Volume 26:Number 21(2017:Nov. 01) Page Start: 4257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency. Issue 5 (4th May 2017) Authors: Lopez‐Gomez, Carlos; Levy, Rebecca J.; Sanchez‐Quintero, Maria J.; Juanola‐Falgarona, Martí; Barca, Emanuele; Garcia‐Diaz, Beatriz; Tadesse, Saba; Garone, Caterina; Hirano, Michio Journal: Annals of neurology Issue: Volume 81:Issue 5(2017) Page Start: 641 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy. Issue 2 (17th June 2019) Authors: Domínguez‐González, Cristina; Madruga‐Garrido, Marcos; Mavillard, Fabiola; Garone, Caterina; Aguirre‐Rodríguez, Francisco Javier; Donati, M. Alice; Kleinsteuber, Karin; Martí, Itxaso; Martín‐Hernández, Elena; Morealejo‐Aycinena, Juan P.; Munell, Francina; Nascimento, Andrés; Kalko, Susana G.; Sar... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. Issue 8 (26th June 2014) Authors: Garone, Caterina; Garcia‐Diaz, Beatriz; Emmanuele, Valentina; Lopez, Luis C; Tadesse, Saba; Akman, Hasan O; Tanji, Kurenai; Quinzii, Catarina M; Hirano, Michio Journal: EMBO molecular medicine Issue: Volume 6:Issue 8(2014:Aug.) Page Start: 1016 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. Issue 8 (26th June 2014) Authors: Garone, Caterina; Garcia‐Diaz, Beatriz; Emmanuele, Valentina; Lopez, Luis C; Tadesse, Saba; Akman, Hasan O; Tanji, Kurenai; Quinzii, Catarina M; Hirano, Michio Journal: EMBO molecular medicine Issue: Volume 6:Issue 8(2014:Aug.) Page Start: 1016 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Retrospective natural history of thymidine kinase 2 deficiency. Issue 8 (30th March 2018) Authors: Garone, Caterina; Taylor, Robert W; Nascimento, Andrés; Poulton, Joanna; Fratter, Carl; Domínguez-González, Cristina; Evans, Julie C; Loos, Mariana; Isohanni, Pirjo; Suomalainen, Anu; Ram, Dipak; Hughes, M Imelda; McFarland, Robert; Barca, Emanuele; Lopez Gomez, Carlos; Jayawant, Sandeep; Thomas,... Journal: Journal of medical genetics Issue: Volume 55:Issue 8(2018) Page Start: 515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Tissue‐specific oxidative stress and loss of mitochondria in CoQ‐deficient Pdss2 mutant mice. Issue 2 (12th November 2012) Authors: Quinzii, Catarina M.; Garone, Caterina; Emmanuele, Valentina; Tadesse, Saba; Krishna, Sindu; Dorado, Beatriz; Hirano, Michio Journal: FASEB journal Issue: Volume 27:Issue 2(2013) Page Start: 612 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Towards a therapy for mitochondrial disease: an update. (19th October 2018) Authors: Garone, Caterina; Viscomi, Carlo Journal: Biochemical Society transactions Issue: Volume 46:Number 5(2018) Page Start: 1247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Towards a therapy for mitochondrial disease: an update. (9th October 2018) Authors: Garone, Caterina; Viscomi, Carlo Journal: Biochemical Society transactions Issue: Volume 46:Number 5(2018) Page Start: 1247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗