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Page 1
Autophagy and Polyglutamine Disease.
Ren H, Hao Z, Wang G. Ren H, et al. Adv Exp Med Biol. 2020;1207:149-161. doi: 10.1007/978-981-15-4272-5_9. Adv Exp Med Biol. 2020. PMID: 32671744 Review.
Polyglutamine (polyQ) disease is a type of fatal neurodegenerative disease caused by an expansion of CAG repeats in a specific gene, resulting in a protein with an abnormal polyQ fragment. ...Previous studies suggest that autophagy plays a major role in the quality …
Polyglutamine (polyQ) disease is a type of fatal neurodegenerative disease caused by an expansion of CAG repeats in a specific …
Hereditary ataxias.
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S. Evidente VG, et al. Mayo Clin Proc. 2000 May;75(5):475-90. doi: 10.4065/75.5.475. Mayo Clin Proc. 2000. PMID: 10807077 Review.
These can be grouped into categories of autosomal recessive, autosomal dominant, and X-linked. Molecularly, many of them are due to trinucleotide repeat expansions. ...
These can be grouped into categories of autosomal recessive, autosomal dominant, and X-linked. Molecularly, many of them are d …
Machado-Joseph disease and other rare spinocerebellar ataxias.
Matilla-Dueñas A. Matilla-Dueñas A. Adv Exp Med Biol. 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. Adv Exp Med Biol. 2012. PMID: 22411243 Review.
The scope of this chapter is to provide an updated information on Machado-Joseph disease (MJD), the most frequent SCA subtype worldwide and other rare spinocerebellar ataxias including dentatorubral-pallidoluysian atrophy (DRPLA), the X-linked f …
The scope of this chapter is to provide an updated information on Machado-Joseph disease (MJD), the most frequent SCA s …
Polyglutamine (PolyQ) diseases: genetics to treatments.
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ. Fan HC, et al. Cell Transplant. 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. Cell Transplant. 2014. PMID: 24816443 Free article. Review.
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar musc …
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Jose
Trinucleotide repeats in neurogenetic disorders.
Paulson HL, Fischbeck KH. Paulson HL, et al. Annu Rev Neurosci. 1996;19:79-107. doi: 10.1146/annurev.ne.19.030196.000455. Annu Rev Neurosci. 1996. PMID: 8833437 Review.
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 t …
To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation both FRAXA and FRAXE …
Molecular genetics of hereditary ataxias.
Banfi S, Zoghbi HY. Banfi S, et al. Baillieres Clin Neurol. 1994 Aug;3(2):281-95. Baillieres Clin Neurol. 1994. PMID: 7952848 Review.
The patterns of inheritance observed in ataxias include autosomal dominant, autosomal recessive and X-linked. Friedreich's ataxia, the most frequent form among the recessive ataxias, has been mapped to the long arm of chromosome 9 based on close linkage to the marke …
The patterns of inheritance observed in ataxias include autosomal dominant, autosomal recessive and X-linked. Friedreich's ata …
The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.
Robitaille Y, Lopes-Cendes I, Becher M, Rouleau G, Clark AW. Robitaille Y, et al. Brain Pathol. 1997 Jul;7(3):901-26. doi: 10.1111/j.1750-3639.1997.tb00893.x. Brain Pathol. 1997. PMID: 9217975 Free PMC article. Review.
This change has been particularly rapid and impressive for the CAG repeat disorders. In Huntington's disease, X-linked spinobulbar muscular atrophy, dentatorubropallidoluysian atrophy, and a series of autosomal dominant cerebellar atrophies, genetic advances …
This change has been particularly rapid and impressive for the CAG repeat disorders. In Huntington's disease, X-linked
Triplet repeat gene sequences in neuropsychiatric diseases.
Li R, el-Mallakh RS. Li R, et al. Harv Rev Psychiatry. 1997 Jul-Aug;5(2):66-74. doi: 10.3109/10673229709034729. Harv Rev Psychiatry. 1997. PMID: 9385023 Review.
These range from a single repeating base to entire duplicated genes. Expansion of repeating triplets of nucleotides in the genome has recently been associated with nine degenerative and developmental neuropsychiatric diseases: fragile X syndrome, fragile X-linked
These range from a single repeating base to entire duplicated genes. Expansion of repeating triplets of nucleotides in the genome has …