1. 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) ↗
2. 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) ↗