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Page 1
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Zimoń M, et al. Among authors: ooms t. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002
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: ooms t. 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.
Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.
Storkebaum E, Leitão-Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, Ooms T, Jacobs A, Van Dijck P, Yang XL, Schimmel P, Norga K, Timmerman V, Callaerts P, Jordanova A. Storkebaum E, et al. Among authors: ooms t. Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11782-7. doi: 10.1073/pnas.0905339106. Epub 2009 Jun 26. Proc Natl Acad Sci U S A. 2009. PMID: 19561293 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: ooms t. Neurology. 2017 Feb 7;88(6):533-542. doi: 10.1212/WNL.0000000000003595. Epub 2017 Jan 11. Neurology. 2017. PMID: 28077491 Free PMC article.
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.
Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. Ermanoska B, et al. Among authors: ooms t. Neurobiol Dis. 2014 Aug;68:180-9. doi: 10.1016/j.nbd.2014.04.020. Epub 2014 May 5. Neurobiol Dis. 2014. PMID: 24807208 Free PMC article.
Understanding the Impact of Mpox on Sexual Health Clinical Services: A National Knowledge, Attitudes, and Practices Survey-United States, 2022.
Schubert SL, Miele K, Quilter LAS, Agnew-Brune C, Coor A, Kachur R, Lewis F, Ard KL, Wendel K, Anderson T, Nagendra G, Tromble E; National Network of STD Clinical Prevention Training Centers. Schubert SL, et al. Sex Transm Dis. 2024 Jan 1;51(1):38-46. doi: 10.1097/OLQ.0000000000001882. Epub 2023 Oct 23. Sex Transm Dis. 2024. PMID: 37889929 Free PMC article.
26 results