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A multicenter study on Leigh syndrome: disease course and predictors of survival.
Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N. Sofou K, et al. Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52. Orphanet J Rare Dis. 2014. PMID: 24731534 Free PMC article.
Phenotypic and genotypic variability in Alpers syndrome.
Sofou K, Moslemi AR, Kollberg G, Bjarnadóttir I, Oldfors A, Nennesmo I, Holme E, Tulinius M, Darin N. Sofou K, et al. Eur J Paediatr Neurol. 2012 Jul;16(4):379-89. doi: 10.1016/j.ejpn.2011.12.006. Epub 2012 Jan 10. Eur J Paediatr Neurol. 2012. PMID: 22237560
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Sofou K, Kollberg G, Holmström M, Dávila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J. Sofou K, et al. Mol Genet Genomic Med. 2015 Jan;3(1):59-68. doi: 10.1002/mgg3.115. Epub 2014 Oct 23. Mol Genet Genomic Med. 2015. PMID: 25629079 Free PMC article.
Ophthalmologic involvement in Leigh syndrome.
Andersson Grönlund M, Andersson S, Åkebrand R, Seyedi Honarvar AK, Sofou K, Darin N, Tulinius M. Andersson Grönlund M, et al. Among authors: sofou k. Acta Ophthalmol. 2017 Feb;95(1):e76. doi: 10.1111/aos.13124. Epub 2016 May 28. Acta Ophthalmol. 2017. PMID: 27234010 Free article. No abstract available.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
31 results