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Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.
Middleton LT, Christodoulou K, Deymeer F, Serdaroglu P, Ozdemir C, al-Qudah AK, al-Shehab A, Mavromatis I, Mylonas I, Evoli A, Tsingis M, Zamba E, Kyriallis K. Middleton LT, et al. Among authors: ozdemir c. Ann N Y Acad Sci. 1998 May 13;841:157-66. doi: 10.1111/j.1749-6632.1998.tb10922.x. Ann N Y Acad Sci. 1998. PMID: 9668234 No abstract available.
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroğlu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG. Middleton L, et al. Among authors: ozdemir c. Neurology. 1999 Sep 22;53(5):1076-82. doi: 10.1212/wnl.53.5.1076. Neurology. 1999. PMID: 10496269
Familial infantile myasthenia: confusion in terminology.
Deymeer F, Serdaroğlu P, Ozdemir C. Deymeer F, et al. Among authors: ozdemir c. Neuromuscul Disord. 1999 May;9(3):129-30. doi: 10.1016/s0960-8966(99)00004-8. Neuromuscul Disord. 1999. PMID: 10382904 No abstract available.
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ. Plaster NM, et al. Among authors: ozdemir c. Cell. 2001 May 18;105(4):511-9. doi: 10.1016/s0092-8674(01)00342-7. Cell. 2001. PMID: 11371347 Free article.
Emery-Dreifuss muscular dystrophy with unusual features.
Deymeer F, Oge AE, Bayindir C, Kaymaz C, Nişanci Y, Adalet K, Yates JR, Ozdemir C. Deymeer F, et al. Among authors: ozdemir c. Muscle Nerve. 1993 Dec;16(12):1359-65. doi: 10.1002/mus.880161214. Muscle Nerve. 1993. PMID: 8232393
342 results