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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.
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.
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
Libri V, Yandim C, Athanasopoulos S, Loyse N, Natisvili T, Law PP, Chan PK, Mohammad T, Mauri M, Tam KT, Leiper J, Piper S, Ramesh A, Parkinson MH, Huson L, Giunti P, Festenstein R. Libri V, et al. Among authors: festenstein r. Lancet. 2014 Aug 9;384(9942):504-13. doi: 10.1016/S0140-6736(14)60382-2. Epub 2014 Apr 30. Lancet. 2014. PMID: 24794816 Free article.
Epigenetics and Triplet-Repeat Neurological Diseases.
Nageshwaran S, Festenstein R. Nageshwaran S, et al. Among authors: festenstein r. Front Neurol. 2015 Dec 21;6:262. doi: 10.3389/fneur.2015.00262. eCollection 2015. Front Neurol. 2015. PMID: 26733936 Free PMC article. Review.
Transient amnesia heralding brain stem infarction.
Howard RS, Festenstein R, Mellers J, Kartsounis LD, Ron M. Howard RS, et al. Among authors: festenstein r. J Neurol Neurosurg Psychiatry. 1992 Oct;55(10):977. doi: 10.1136/jnnp.55.10.977. J Neurol Neurosurg Psychiatry. 1992. PMID: 1431969 Free PMC article. No abstract available.
Gene regulation and epigenetics in Friedreich's ataxia.
Yandim C, Natisvili T, Festenstein R. Yandim C, et al. Among authors: festenstein r. J Neurochem. 2013 Aug;126 Suppl 1:21-42. doi: 10.1111/jnc.12254. J Neurochem. 2013. PMID: 23859339 Free article. Review.
42 results