Gurung, S, Timmermand, OV, Perocheau, D, Gil-Martinez, AL, Minnion, M, Touramanidou, L, Fang, S, Messina, M, Khalil, Y, Spiewak, J, Barber, AR, Edwards, RS, Pinto, PL, Finn, PF, Cavedon, A, Siddiqui, S, Rice, L, Martini, PGV, Ridout, D, Heywood, W et al, Hargreaves, I, Heales, S, Mills, PB, Waddington, SN, Gissen, P, Eaton, S, Ryten, M, Feelisch, M, Frassetto, A, Witney, TH and Baruteau, J (2024) mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science Translational Medicine, 16 (729). ISSN 1946-6234

Tucci, A, Liu, Y-T, Preza, E, Pitceathly, RDS, Chalasani, A, Plagnol, V, Land, JM, Trabzuni, D, Ryten, M, Jaunmuktane, Z, Reilly, MM, Brandner, S, Hargreaves, IP, Hardy, J, Singleton, AB, Abramov, AY and Houlden, H (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery and Psychiatry (JNNP), 85 (5). pp. 486-492. ISSN 0022-3050