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Page 1
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. Agrawal PB, et al. Among authors: haliloglu g. Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087613 Free PMC article.
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. Dinçer P, et al. Among authors: haliloglu g. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799
Beta-sarcoglycan gene mutations in Turkey.
Balci B, Wilichowski E, Haliloğlu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloğlu H, Bonnemann C, Dinçer P. Balci B, et al. Among authors: haliloglu g. Acta Myol. 2004 Dec;23(3):154-8. Acta Myol. 2004. PMID: 15938573
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: haliloglu g. 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
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. Ravenscroft G, et al. Among authors: haliloglu g. Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746549 Free PMC article.
119 results