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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Okamoto Y, et al. Among authors: matur z. Genet Med. 2014 May;16(5):386-394. doi: 10.1038/gim.2013.155. Epub 2013 Oct 17. Genet Med. 2014. PMID: 24136616 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. Among authors: matur z. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002
Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study.
Tasdemir V, Sirin NG, Cakar A, Culha A, Soysal A, Elmali AD, Gunduz A, Arslan B, Yalcin D, Atakli D, Orhan EK, Sanli E, Tuzun E, Gozke E, Gursoy E, Savrun FK, Uslu FI, Aysal F, Durmus H, Bulbul H, Ertas FI, Uluc K, Tutkavul K, Baysal L, Baslo MB, Kiziltan M, Mercan M, Pazarci N, Uzun N, Akan O, Cokar O, Koytak PK, Sürmeli R, Gunaydin S, Ayas S, Baslo SA, Yayla V, Yilmaz V, Parman Y, Matur Z, Acar ZU, Oge AE. Tasdemir V, et al. Among authors: matur z. J Peripher Nerv Syst. 2024 Mar;29(1):72-81. doi: 10.1111/jns.12612. Epub 2024 Jan 30. J Peripher Nerv Syst. 2024. PMID: 38291679
41 results