Results 221 to 230 of about 26,354 (249)

Trinucleotide Repeats in Neurogenetic Disorders

Annual Review of Neuroscience, 1996
Trinucleotide repeat expansion is increasingly recognized as a cause of neurogenetic diseases. To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation (both FRAXA and FRAXE loci), myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia
Kenneth H. Fischbeck, Henry L. Paulson
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Trinucleotide repeat disorders in pediatrics

The Journal of Pediatrics, 1995
The relationship between the expansion of trinucleotide repeat sequences and human disease hs been the subject of a significant volume of study since the identification of a CGG repeat sequence in the mutated gene responsible for the fragile X syndrome.
Huda Y. Zoghbi, D M O'Donnell
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Trinucleotide Repeats: Mechanisms and Pathophysiology

Annual Review of Genomics and Human Genetics, 2000
Within the closing decade of the twentieth century, 14 neurological disorders were shown to result from the expansion of unstable trinucleotide repeats, establishing this once unique mutational mechanism as the basis of an expanding class of diseases.
Chris J. Cummings, Huda Y. Zoghbi
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Trinucleotide repeat disorders

2018
Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances.
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Trinucleotide Repeat Expansion and Neuropsychiatric Disease

Archives of General Psychiatry, 1999
Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and
Christopher A. Ross, Russell L. Margolis, Melvin G. McInnis, Adam Rosenblatt   +3 more
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Synthesis of long trinucleotide repeats in vitro

Neuroscience Letters, 1999
More than a dozen diseases have been associated with the expansion of trinucleotide repeats. Most of these expanding repeats are GC-rich (CGG/CCG or CTG/CAG), but it is difficult to amplify GC-rich repeat DNA from patient samples by the polymerase chain reaction.
Nobuhiro Takahashi, Noboru Sasagawa, Koichi Suzuki, Shoichi Ishiura   +3 more
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Trinucleotide repeats and hereditary ataxias [PDF]

Nature Medicine, 1997
The mutations causing SCA2, SCA6 and Friedreich's ataxia are unstable expansions of trinucleotide repeats.
J. Dichgans, T. Klockgether
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The Expanding World of Trinucleotide Repeats

Science, 1996
A paper in this week's issue of Science (Campuzano et al. , p. 1423 ) reports that Friedreich's ataxia has now joined the list of diseases caused by expanding trinucleotide repeats. In his Perspective, S.
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Frequency and coverage of trinucleotide repeats in eukaryotes

Gene, 2003
In the aim to assess whether the tri-repeat shortage reported in vertebrates affects specific motifs, such as those causing neuromuscular diseases in man, we detected approximate di-, tri- and tetra-repeats (STR) longer than 25 bases in human chromosomes 21 and 22, and in some model organisms (M. musculus, D. melanogaster, C. elegans, A. thaliana and S.
ASTOLFI P., BELLIZZI, Dina, SGARAMELLA V.   +2 more
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Trinucleotide repeat expansions in neurological disease

Current Opinion in Neurobiology, 1993
During the past year, new examples of human neurological disease have been discovered that have an unprecedented type of mutation as their cause: the remarkable expansion of trinucleotide repeats. These triplet repeats are normally polymorphic and exonic, though not always coding.
Stephen T. Warren, David L. Nelson, David L. Nelson   +2 more
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