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Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7.
Sürücü Kara İ, Köse E, Doğulu N, Yüksel MF, Ceylaner S, Kendirli T, Eminoğlu FT. Sürücü Kara İ, et al. Among authors: ceylaner s. Clin Neurol Neurosurg. 2022 Sep;220:107375. doi: 10.1016/j.clineuro.2022.107375. Epub 2022 Jul 20. Clin Neurol Neurosurg. 2022. PMID: 35917699
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: ceylaner s. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Two novel missense mutations in nonketotic hyperglycinemia.
Yilmaz BS, Kor D, Ceylaner S, Mert GG, Incecik F, Kartal E, Mungan NO. Yilmaz BS, et al. Among authors: ceylaner s. J Child Neurol. 2015 May;30(6):789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16. J Child Neurol. 2015. PMID: 24838951
Mitochondrial Membrane Protein-Associated Neurodegeneration.
Yilmaz S, Gokben S, Ceylaner S. Yilmaz S, et al. Among authors: ceylaner s. Pediatr Neurol. 2015 Oct;53(4):373-4. doi: 10.1016/j.pediatrneurol.2015.06.012. Epub 2015 Jun 21. Pediatr Neurol. 2015. PMID: 26231266 No abstract available.
238 results