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Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN. Tunca C, et al. Among authors: uluc k. Hum Mutat. 2020 Aug;41(8):e7-e45. doi: 10.1002/humu.24055. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32579787
Madras motor neuron disease in Turkey.
Isak B, Uluc K, Tanridag T, Ozsahin S, Dengler R, Us O, Petri S. Isak B, et al. Among authors: uluc k. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):347-9. doi: 10.3109/17482960802645016. Amyotroph Lateral Scler. 2009. PMID: 19922122
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.
Kocoglu C, Gundogdu A, Kocaman G, Kahraman-Koytak P, Uluc K, Kiziltan G, Caglayan AO, Bilguvar K, Vural A, Basak AN. Kocoglu C, et al. Among authors: uluc k. Neurol Genet. 2018 Jan 18;4(1):e218. doi: 10.1212/NXG.0000000000000218. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29379883 Free PMC article. No abstract available.
A database for screening and registering late onset Pompe disease in Turkey.
Gokyigit MC, Ekmekci H, Durmus H, Karlı N, Koseoglu E, Aysal F, Kotan D, Ali A, Koytak PK, Karasoy H, Yaman A, Sengun İS, Sayin R, Tiftikcioglu BI, Soysal A, Tutkavul K, Bayrak AO, Kısabay A, Elci MA, Yayla V, Yılmaz İA, Ozdamar SE, Erdogan C, Tasdemir N, Serdaroglu Oflazer P; Turkish Study Group for Late Onset Pompe Disease. Gokyigit MC, et al. Neuromuscul Disord. 2018 Mar;28(3):262-267. doi: 10.1016/j.nmd.2017.12.008. Epub 2017 Dec 20. Neuromuscul Disord. 2018. PMID: 29395671
94 results