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ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress.
Vrijsen S, Besora-Casals L, van Veen S, Zielich J, Van den Haute C, Hamouda NN, Fischer C, Ghesquière B, Tournev I, Agostinis P, Baekelandt V, Eggermont J, Lambie E, Martin S, Vangheluwe P. Vrijsen S, et al. Among authors: tournev i. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31198-31207. doi: 10.1073/pnas.1922342117. Epub 2020 Nov 23. Proc Natl Acad Sci U S A. 2020. PMID: 33229544 Free PMC article.
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R. Estrada-Cuzcano A, et al. Among authors: tournev i. Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307. Brain. 2017. PMID: 28137957 Free PMC article.
Axonal neuropathy with neuromyotonia: there is a HINT.
Peeters K, Chamova T, Tournev I, Jordanova A. Peeters K, et al. Among authors: tournev i. Brain. 2017 Apr 1;140(4):868-877. doi: 10.1093/brain/aww301. Brain. 2017. PMID: 28007994 Free PMC article. Review.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Farazi Fard MA, et al. Among authors: tournev i. Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929741 Free PMC article.
Reply: Mutations in TUBB4A and spastic paraplegia.
Chamova T, Kancheva D, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Jordanova A, Tournev I. Chamova T, et al. Among authors: tournev i. Mov Disord. 2015 Nov;30(13):1858-9. doi: 10.1002/mds.26442. Epub 2015 Oct 19. Mov Disord. 2015. PMID: 26477690 No abstract available.
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parman Y, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A. Kancheva D, et al. Among authors: tournev i. Genet Med. 2016 Jun;18(6):600-7. doi: 10.1038/gim.2015.139. Epub 2015 Oct 22. Genet Med. 2016. PMID: 26492578 Free article.
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A. Peeters K, et al. Among authors: tournev i. Am J Hum Genet. 2013 Jun 6;92(6):955-64. doi: 10.1016/j.ajhg.2013.04.013. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664119 Free PMC article.
152 results