Publications

Hathazi D., Lyons C., Lagos D, Podmanicky O, Zarate-Mendez M, Nie N, Müller JS, Allison KSJ, Lako M, Morava-Kozicz E, Kozicz T, Chinnery P, Lakatos A, Horvath R. Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation. Preprint, 2025 Mar 22. https://doi.org/10.1101/2025.03.21.644499

Hendrickx N., Mentré F., Hamdan A., Karlsson M. O., Hooker A. C., Traschütz A., Gagnon C., Schüle R., ARCA Study Group, EVIDENCE-RND consortium, Synofzik M., Comets E.: Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA score. BMC Medical Research Methodology (25, 179 (2025).  https://doi.org/10.1186/s12874-025-02626-x

Pratt SL, Zarate-Mendez M, Koludarova L, Jansson S, Airavaara M, Hlushchuk I, Coleman D, Heffner C, Horvath R, Battersby BJ, Burgess RW. Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency. Dis Model Mech (2025) 18 (5): dmm052120. https://doi.org/10.1242/dmm.052120

Schüle R, Graessner H, Aartsma-Rus A, van Roon-Mom WMC; N=1 Collaborative (N1C); 1 Mutation 1 Medicine Consortium (1M1M); Synofzik M: Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation. Mol Ther Nucleic Acids. 2025 Jul 1;36(3):102615. https://doi.org/10.1016/j.omtn.2025.102615

Tiet MY, Guțu BI, Springall-Jeggo P, Coman D, Willemsen M, Van Os N, Doria M, Donath H, Schubert R, Dineen RA, Biagiotti S, Prayle AP, Group ATBW, Hensiek AE, Horvath R. Biomarkers in Ataxia-Telangiectasia: a Systematic Review. J Neurol. 2025 Jan 15;272(2):110. https://doi.org/10.1007/s00415-024-12766-7