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A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Perić S, Glumac JN, Töpf A, Savić-Pavićević D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenković S, Rašić VM, Banko B, Maksimović R, Lochmüller H, Stojanović VR, Straub V. Perić S, et al. Eur J Hum Genet. 2017 May;25(5):572-581. doi: 10.1038/ejhg.2017.16. Epub 2017 Mar 15. Eur J Hum Genet. 2017. PMID: 28295036 Free PMC article.
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. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002
Molecular genetics and genetic testing in myotonic dystrophy type 1.
Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S. Savić Pavićević D, et al. Biomed Res Int. 2013;2013:391821. doi: 10.1155/2013/391821. Epub 2013 Mar 18. Biomed Res Int. 2013. PMID: 23586035 Free PMC article. Review.
Brain sonography insight into the midbrain in myotonic dystrophy type 2.
Rakocevic-Stojanovic V, Peric S, Savic-Pavicevic D, Pesovic J, Mesaros S, Lavrnic D, Jovanovic Z, Pavlovic A. Rakocevic-Stojanovic V, et al. Muscle Nerve. 2016 May;53(5):700-4. doi: 10.1002/mus.24927. Epub 2015 Nov 26. Muscle Nerve. 2016. PMID: 26425828
Multidimensional aspects of pain in myotonic dystrophies.
Peric M, Peric S, Rapajic N, Dobricic V, Savic-Pavicevic D, Nesic I, Radojicic S, Novakovic I, Lavrnic D, Rakocevic-Stojanovic V. Peric M, et al. Acta Myol. 2015 Dec;34(2-3):126-32. Acta Myol. 2015. PMID: 27199540 Free PMC article.
Quality of life in patients with myotonic dystrophy type 2.
Rakocevic Stojanovic V, Peric S, Paunic T, Pesovic J, Vujnic M, Peric M, Nikolic A, Lavrnic D, Savic Pavicevic D. Rakocevic Stojanovic V, et al. J Neurol Sci. 2016 Jun 15;365:158-61. doi: 10.1016/j.jns.2016.04.018. Epub 2016 Apr 16. J Neurol Sci. 2016. PMID: 27206898
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