Emery-Dreifuss muscular dystrophy (EDMD; OMIM # 310300) is an X-linked disease characterized by early contractures of the elbows, Achilles’ tendons and posterior neck, slow progressive muscle wasting and cardiomyopathy with atrioventricular conduction block (Emery and Dreifuss, 1966; Rowland et al., 1979; Emery, 1989). Positional cloning has identified a gene on chromosome Xq28 that is mutated ...

The use of serum creatine kinase (SCK) estimations in the detection of female carriers of the severe (Duchenne-type) X-linked muscular dystrophy was first introduced by Okinaka and his colleagues in 1959, and since then the value of this test has been confirmed by many others (Dreyfus and Schapira, 1961; Hughes, 1963; Richterich, et al, 1963; Emery, 1965; Rotthauwe and Kowalewski, 1965; Wilson,...

Jangdae Youn , Sumit Kewalramani , Jonathan D. Emery , Yanrong Shi , Shiming Zhang , Hsiu-Chieh Chang , You-jhih Liang , Chia-Ming Yeh , Chieh-Yuan Feng , Hui Huang , Charlotte Stern , Liang-Hsiang Chen , Jia-Chong Ho , Ming-Chou Chen , * Michael J. Bedzyk , * Antonio Facchetti , * and Tobin J. Marks * Fused Thiophene Semiconductors: Crystal Structure–Film Microstructure Transistor Performance ...

This is the first Monte Carlo study of the hard-sphere lattice gas with nearest neighbour exclusion on the body-centred cubic lattice. We estimate the critical activity to be 0.7223 ± 0.0003. This result confirms that there is a re-entrant phase transition of an antiferromagnetic Ising model in an external field and a Blume-Emery-Griffiths model on the body-centred cubic lattice.