Scientists

Kristensen E, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Martikainen MH, Ortigoza-Escobar JD, Tangeraas T, Berland S, Sue CM, Walker JS, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Hikmat O (2025)
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients
J Inherit Metab Dis, 48 (6), e70112
DOI 10.1002/jimd.70112, PubMed 41239934

Hynes C, Williams E, Misceo D, Strømme P, Frengen E, Kakumani PK (2025)
De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition
Biochim Biophys Acta Mol Basis Dis, 1872 (3), 168104 (in press)
DOI 10.1016/j.bbadis.2025.168104, PubMed 41207398

Aas MF, Acun C, Aly H, Bainbridge A, Baldauf C, Basu A, Belzu M, Bendix I, Benitez M, Bloom C, Branagan A, Breaks A, Brechmann M, Brosius-Lutz A, Cagatay NS, Campbell E, Cengiz P, Cetin F, Chalak L, Chau V, Cherkerzian S, Chhabra R, Chorne N, Collo L, Craig A et al. (2024)
Proceedings of the 15^th International Newborn Brain Conference: Neuroprotection strategies in the neonate: Fota Island, Cork, Ireland, February 28^th - March 2^nd 2024
J Neonatal Perinatal Med, 17 (3), S317-S344
DOI 10.3233/NPM-249002, PubMed 41121626