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pro vyhledávání: '"Alan E H Emery"'
Autor:
Alan E. H. Emery
The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dyst
Autor:
Marcia L. H. Emery, Jacqueline Mikol, Hans H. Goebel, Alan E. H. Emery, Michael Swash, Olivier Walusinski
Publikováno v:
Neuromuscular Disorders. 27:298-303
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Mun
Autor:
Alan E. H. Emery
Publikováno v:
Clinical Genetics. 32:360-367
The original Virginia family with X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type) has been reinvestigated 25 years later. The findings confirm that a cardiomyopathy, presenting most often as atrioventricul
Autor:
Andrew P. Brooks, Alan E. H. Emery
Publikováno v:
Clinical Genetics. 11:290-294
In a survey carried out to determine the incidence of Duchenne muscular dystrophy in the South East of Scotland, 47 cases were ascertained among 177,413 live male births for the years 1953 to 1968. The overall incidence is 1 case in 3,775 live male b
Publikováno v:
Clinical Genetics. 15:444-449
One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub-divid
Autor:
Alan E. H. Emery, Rosalind Skinner
Publikováno v:
Clinical Genetics. 10:189-201
Ten extensive families with benign (Becker type) X-linked muscular dystrophy have been studied, in which there was a total of 67 affected males. Reliable information was available on 41 of these males, 29 of whom were alive at the time of the study.
Autor:
Alan E. H. Emery, Louise McGregor
Publikováno v:
Clinical Genetics. 12:183-187
In tissue culture of muscle from five normal foetuses and four male foetuses at risk for Duchenne muscular dystrophy, no differences were found with regard to the ease with which cultures could be established and maintained, or in gross morphology or
Autor:
Alan E. H. Emery, James Toop
Publikováno v:
Clinical Genetics. 5:230-233
Quadriceps muscle samples taken from four therapeutically aborted male fetuses (16 to 21 weeks gestation) at risk of developing Duchenne muscular dystrophy have been examined histologically. Two of the four samples were indistinguishable from normal
Autor:
Alan E. H. Emery, K. Fried
Publikováno v:
Clinical Genetics. 2:203-209
A form of spinal muscular atrophy (S. M. A.) intermediate in severity between the infantile (Werd-nig-Hoffmann or type I) and juvenile (Kugelberg-Welander or type III) forms of this disease has been defined. This is referred to as intermediate or typ