Biomedical subjects

Alan E H Emery

Publications and source records attributed to Alan E H Emery.

At least 19 recordsLinked to original sources

PubMed2006

Neurogenetics in art.

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Emotions↗

PubMed2002

The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal; facioscapulohumeral; oculopharyngeal; and limb-girdle which is the most heterogeneous group. In several dystrophies the heart can be seriously affected, sometimes in the absence of clinically significant weakness. The genes and their protein products that cause most of these disorders have now been identified. This information is essential to establish an accurate diagnosis and for reliable genetic counselling and prenatal diagnosis. There is, as yet, no way of greatly affecting the long-term course of any of these diseases. However, advances in gene manipulation and stem-cell therapy suggest cautious optimism for finding an effective treatment in the not-too-distant future.

Cardiomyopathy, Dilated↗

PubMed2002

Muscular dystrophy into the new millennium.

Since the identification of the gene for Duchenne muscular dystrophy and its protein product some 15 years ago, the basic defects in all the commoner forms of dystrophy have now been identified. It is thus possible, on the basis of this information, to make a precise diagnosis in an affected individual and to offer accurate genetic counselling and prenatal diagnosis. Now newer technologies are being applied to the investigation of these disorders. These include studies of single nucleotide polymorphisms, microarray analysis and expression profiling, the yeast two-hybrid assay, and proteomics. A great deal of new information is emerging in this way which will hopefully help us to understand the causes of inter-familial and intra-familial variation and particularly pathogenesis, a detailed understanding of which could be the first step in finding effective treatments.

Humans↗

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