Articles with "cag repeats" as a keyword



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CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort

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Published in 2020 at "Journal of the Neurological Sciences"

DOI: 10.1016/j.jns.2020.116842

Abstract: Little is known about the genetic basis of amyotrophic lateral sclerosis (ALS) outside Europe and US. In this study, we investigated whether intermediate CAG expansions at ATXN1 were associated to ALS in the Brazilian population.… read more here.

Keywords: amyotrophic lateral; cag repeats; repeats ataxin; lateral sclerosis ... See more keywords
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Reduced-penetrance Huntington’s disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis

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Published in 2022 at "Journal of the Chinese Medical Association"

DOI: 10.1097/jcma.0000000000000837

Abstract: Background: Expanded HTT alleles with 40 or more CAG repeats were recently found to be a rare cause of frontotemporal dementia and amyotrophic lateral sclerosis (ALS) spectrum diseases. The aim of this study was to… read more here.

Keywords: htt; alleles cag; lateral sclerosis; cag repeats ... See more keywords
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Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT

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Published in 2019 at "Brain Sciences"

DOI: 10.3390/brainsci9100245

Abstract: Huntington’s disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27–35 repeats) also display a subtle phenotype. This patient had a slightly… read more here.

Keywords: cag repeats; repeats htt; hint huntington; parkinsonism hint ... See more keywords
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Androgen Receptor Gene CAG Repeat Length Varies and Affects Semen Quality in an Ethnic-Specific Fashion in Young Men from Russia

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms231810594

Abstract: Male infertility is a multi-factorial and multi-genetic disorder, and the prevalence of male infertility in the world is estimated at 5–35%. The search for the causes of male infertility allowed for identifying a number of… read more here.

Keywords: semen quality; cag; cag repeat; cag repeats ... See more keywords