Clinical and genetic study of one DRPLA case
Chinese Journal of Contemporary Neurology and Neurosurgery, 2010 Objective To investigate the clinical and genetic features of dentatorubral ⁃ pallidoluysian atrophy (DRPLA). Methods The trinucleotide repeats of spinocerebellar ataxia (SCA) disease genes were detected by polymerase chain reaction (PCR) initially in ...
Ying HAO +6 more
doaj
BioTechniques, 2018 Numerous human diseases are associated with abnormal expansion of unstable trinucleotide repeats (TNRs). TNR instability mechanisms are complex, and remain only partially understood.
Elodie Dandelot, Geneviève Gourdon
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Executive Impairment in Huntington's Disease: Insights From a Systematic Review of the Literature
Brain and Behavior, Volume 16, Issue 2, February 2026.Executive dysfunction in Huntington's disease follows a selective, stage‐dependent pattern, with early deficits in psychomotor speed, cognitive flexibility, inhibition, and working‐memory updating. Progression is associated with broader impairments in planning and attention.
Simone Migliore +4 more
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Ecology and Evolution, Volume 16, Issue 2, February 2026.This study developed and validated 14 polymorphic microsatellite markers to investigate the population genetics of Hyalomma rufipes, a tick species that transmits Crimean‐Congo Hemorrhagic Fever Virus (CCHFV) in East Africa. Ticks collected from livestock in northern Kenya were morphologically and genetically identified, followed by genome sequencing ...
Hamza Ahmad +14 more
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MedComm, Volume 7, Issue 2, February 2026.Neurons, immune cells, and other cellular components within the disease microenvironment (such as stromal cells and tumor cells) constitute a dynamically evolving ecosystem. Neurons directly modulate immune cell activity and inflammatory responses through the release of neurotransmitters (e.g., norepinephrine and CGRP), while also promoting tumor ...
Xin Guo +11 more
wiley +1 more source
The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World
Prenatal Diagnosis, EarlyView.
Teresa N. Sparks, Lyn S. Chitty
wiley +1 more source
Correction: A CTG trinucleotide repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 [PDF]
, 2002 S Holmes +26 more
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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. [PDF]
J Chin Med Assoc, 2023 Jih KY, Lai KL, Lin KP, Liao YC, Lee YC.
europepmc +1 more source
Trinucleotide repeat polymorphism at the human met-tRNA-i gene 1 (TRMI) [PDF]
, 1991 Mihael H. Polymeropoulos +3 more
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Structure and Dynamics of DNA and RNA Double Helices Formed by d(CTG), d(GTC), r(CUG), and r(GUC) Trinucleotide Repeats and Associated DNA-RNA Hybrids. [PDF]
J Phys Chem B, 2023 Fakharzadeh A +4 more
europepmc +1 more source