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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: mavromatis i. Neurology. 1999 Sep 22;53(5):1076-82. doi: 10.1212/wnl.53.5.1076. Neurology. 1999. PMID: 10496269
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: mavromatis i. 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.
Amyotrophic lateral sclerosis with sarcoidosis.
Karacostas D, Parissis D, Michailidou B, Mavromatis I, Ropper AH. Karacostas D, et al. Among authors: mavromatis i. Amyotroph Lateral Scler. 2007 Jun;8(3):191-2. doi: 10.1080/17482960701223832. Amyotroph Lateral Scler. 2007. PMID: 17538784 No abstract available.
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