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Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
Thomas-Black G, Altmann DR, Crook H, Solanky N, Carrasco FP, Battiston M, Grussu F, Yiannakas MC, Kanber B, Jolly JK, Brett J, Downes SM, Moran M, Chan PK, Adewunmi E, Gandini Wheeler-Kingshott CAM, Németh AH, Festenstein R, Bremner F, Giunti P. Thomas-Black G, et al. Among authors: festenstein r. Mov Disord. 2023 Jun;38(6):959-969. doi: 10.1002/mds.29277. Epub 2022 Nov 25. Mov Disord. 2023. PMID: 36433650
Mouse HP1γ regulates TRF1 expression and telomere stability.
Stylianakis E, Chan JPK, Law PP, Jiang Y, Khadayate S, Karimi MM, Festenstein R, Vannier JB. Stylianakis E, et al. Among authors: festenstein r. Life Sci. 2023 Oct 15;331:122030. doi: 10.1016/j.lfs.2023.122030. Epub 2023 Aug 18. Life Sci. 2023. PMID: 37598977 Free article.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. Among authors: festenstein r. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Chronic oral administration of adipoRon reverses cognitive impairments and ameliorates neuropathology in an Alzheimer's disease mouse model.
Ng RC, Jian M, Ma OK, Bunting M, Kwan JS, Zhou GJ, Senthilkumar K, Iyaswamy A, Chan PK, Li M, Leung KM, Kumar Durairajan SS, Lam KS, Chu LW, Festenstein R, Chung SK, Chan KH. Ng RC, et al. Among authors: festenstein r. Mol Psychiatry. 2021 Oct;26(10):5669-5689. doi: 10.1038/s41380-020-0701-0. Epub 2020 Mar 4. Mol Psychiatry. 2021. PMID: 32132650
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA).
Reetz K, Hilgers RD, Isfort S, Dohmen M, Didszun C, Fedosov K, Kistermann J, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Klockgether T, Pandolfo M, Korinthenberg R, Lavin P, Molenberghs G, Libri V, Giunti P, Festenstein R, Schulz JB; EFACTS or NICOFA study group. Reetz K, et al. Among authors: festenstein r. Neurol Res Pract. 2019 Oct 15;1:33. doi: 10.1186/s42466-019-0038-9. eCollection 2019. Neurol Res Pract. 2019. PMID: 33324899 Free PMC article. Clinical Trial.
42 results