Costigan FA, Chau T, Geytenbeek J, Stadskleiv K, Batorowicz B, Hopmans S, McCauley D, Grahovac D, Agnew B, Friesen J, Cunningham BJ (2026)
Bringing the Computer-Based Instrument for Low Motor Language Testing to Canada: A Survey of Caregiver and Clinician Perspectives
Int J Lang Commun Disord, 61 (1), e70176
DOI 10.1111/1460-6984.70176, PubMed 41456947

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