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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.
Practices of pediatric emergency physicians on the first febrile and afebrile seizures: a research in European Pediatric Emergency Medicine Survey Study.
Teksam O, Serdaroglu E, Haliloglu G, Konuskan B, Yalnizoglu D; association with the REPEM Network (Research in European Paediatric Emergency Medicine). Teksam O, et al. Among authors: haliloglu g. Eur J Emerg Med. 2022 Dec 1;29(6):455-457. doi: 10.1097/MEJ.0000000000000957. Epub 2022 Oct 25. Eur J Emerg Med. 2022. PMID: 36300312 No abstract available.
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
Glycosylation defects in muscular dystrophies.
Haliloğlu G, Topaloğlu H. Haliloğlu G, et al. Curr Opin Neurol. 2004 Oct;17(5):521-7. doi: 10.1097/00019052-200410000-00002. Curr Opin Neurol. 2004. PMID: 15367856 Review.
122 results