Zobrazeno 1 - 10
of 219
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ee5f9369db18dfbaeae184a3e27096
https://doi.org/10.1016/j.nmd.2016.11.016
https://doi.org/10.1016/j.nmd.2016.11.016
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ba42b97a4d5bac7975155a457c5f8c7
https://doi.org/10.1111/j.1399-0004.1987.tb03302.x
https://doi.org/10.1111/j.1399-0004.1987.tb03302.x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc5c270089f871627bd4bbfcdb68cc06
https://doi.org/10.1111/j.1399-0004.1977.tb01315.x
https://doi.org/10.1111/j.1399-0004.1977.tb01315.x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b71c4a7dc7ea3ae81458ffa920dc49e
https://doi.org/10.1111/j.1399-0004.1979.tb01777.x
https://doi.org/10.1111/j.1399-0004.1979.tb01777.x
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9312abb40a86ec8bff199c0cda648a4f
https://doi.org/10.1111/j.1399-0004.1976.tb00033.x
https://doi.org/10.1111/j.1399-0004.1976.tb00033.x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90718e938c347920e132801f2886c88a
https://doi.org/10.1111/j.1399-0004.1977.tb00922.x
https://doi.org/10.1111/j.1399-0004.1977.tb00922.x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b6ed73ed9db10467fb1d2b0150cffc
https://doi.org/10.1111/j.1399-0004.1974.tb01687.x
https://doi.org/10.1111/j.1399-0004.1974.tb01687.x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b36e035e203bd4d02f57f9fa4dd8821a
https://doi.org/10.1111/j.1399-0004.1971.tb00278.x
https://doi.org/10.1111/j.1399-0004.1971.tb00278.x