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Page 1
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
Ermanoska B, Asselbergh B, Morant L, Petrovic-Erfurth ML, Hosseinibarkooie S, Leitão-Gonçalves R, Almeida-Souza L, Bervoets S, Sun L, Lee L, Atkinson D, Khanghahi A, Tournev I, Callaerts P, Verstreken P, Yang XL, Wirth B, Rodal AA, Timmerman V, Goode BL, Godenschwege TA, Jordanova A. Ermanoska B, et al. Among authors: jordanova a. Nat Commun. 2023 Mar 8;14(1):999. doi: 10.1038/s41467-023-35908-3. Nat Commun. 2023. PMID: 36890170 Free PMC article.
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzińska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P. Baets J, et al. Among authors: jordanova a. Brain. 2011 Sep;134(Pt 9):2664-76. doi: 10.1093/brain/awr184. Epub 2011 Aug 11. Brain. 2011. PMID: 21840889 Free PMC article.
A novel AARS mutation in a family with dominant myeloneuropathy.
Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. Motley WW, et al. Among authors: jordanova a. Neurology. 2015 May 19;84(20):2040-7. doi: 10.1212/WNL.0000000000001583. Epub 2015 Apr 22. Neurology. 2015. PMID: 25904691 Free PMC article.
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.
Atkinson D, Nikodinovic Glumac J, Asselbergh B, Ermanoska B, Blocquel D, Steiner R, Estrada-Cuzcano A, Peeters K, Ooms T, De Vriendt E, Yang XL, Hornemann T, Milic Rasic V, Jordanova A. Atkinson D, et al. Among authors: jordanova a. Neurology. 2017 Feb 7;88(6):533-542. doi: 10.1212/WNL.0000000000003595. Epub 2017 Jan 11. Neurology. 2017. PMID: 28077491 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: jordanova a. Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307. Brain. 2017. PMID: 28137957 Free PMC article.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Among authors: jordanova a. Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138. Brain. 2017. PMID: 28633435 Free article.
146 results