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A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H. Nelis E, et al. Among authors: erdem s. Neuromuscul Disord. 2002 Nov;12(9):869-73. doi: 10.1016/s0960-8966(02)00046-9. Neuromuscul Disord. 2002. PMID: 12398840 Clinical Trial.
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Nelis E, et al. Among authors: erdem s. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K. Senderek J, et al. Among authors: erdem s. Am J Hum Genet. 2003 Nov;73(5):1106-19. doi: 10.1086/379525. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574644 Free PMC article.
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A. Zimoń M, et al. Among authors: erdem s. Neurogenetics. 2015 Jan;16(1):33-42. doi: 10.1007/s10048-014-0422-0. Epub 2014 Sep 18. Neurogenetics. 2015. PMID: 25231362 Free PMC article.
Andermann syndrome in a Turkish patient.
Demir E, Irobi J, Erdem S, Demirci M, Tan E, Timmerman V, De Jonghe P, Topaloglu H. Demir E, et al. Among authors: erdem s. J Child Neurol. 2003 Jan;18(1):76-9. doi: 10.1177/08830738030180011901. J Child Neurol. 2003. PMID: 12661946
Giant axonal neuropathy: clinical and genetic study in six cases.
Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar AN, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H. Demir E, et al. Among authors: erdem s. J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):825-32. doi: 10.1136/jnnp.2003.035162. J Neurol Neurosurg Psychiatry. 2005. PMID: 15897506 Free PMC article.
Calpain-3 mutations in Turkey.
Balci B, Aurino S, Haliloglu G, Talim B, Erdem S, Akcören Z, Tan E, Caglar M, Richard I, Nigro V, Topaloglu H, Dincer P. Balci B, et al. Among authors: erdem s. Eur J Pediatr. 2006 May;165(5):293-8. doi: 10.1007/s00431-005-0046-3. Epub 2006 Jan 13. Eur J Pediatr. 2006. PMID: 16411092
600 results