Year: 1996
Type: review
Abstract: A veritable explosion is taking place in our understanding of the human genetics, biochemistry, and DNA structural issues related to human hereditary neuromuscular and neurodegenerative diseases. Also, the non-Mendelian expansion process that elicits these disease manifestations (anticipation) is under intense investigation. Within the last 3 years, the molecular basis of 10 human genetic disorders (including fragile X syndrome (FRAXA and FRAXE), myotonic dystrophy (DM), (1) Kennedy's disease, Huntington's disease (HD), spinocerebellar ataxia type 1 (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA)) has been partially established (reviewed in (1, 2, 3, 4, 5)).
Source: Journal of Biological Chemistry
Author: Robert D. Wells
Institution: Texas A&M University
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,430
OpenAlex ID: W2095344231