Results 101 to 110 of about 26,757 (246)

Along‐Tract Diffusion Alterations in the Dentato‐Rubro‐Thalamic Tract Correlate With Motor and Cognitive Decline in Huntington's Disease

Human Brain Mapping, Volume 46, Issue 11, 01 August 2025.
Our study analyzed longitudinal diffusion MRI data from healthy and Huntington's disease (HD) individuals to investigate the dentato‐rubro‐thalamic tract (DRTT) in HD. Microstructural disruptions along the DRTT were linked to motor and cognitive impairments, suggesting cerebellar involvement in disease progression and highlighting DRTT alterations as ...
Zexi Wang, Alexia Solomon, Janine M. Lupo, Jingwen Yao   +3 more
wiley   +1 more source

Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase [PDF]

, 2016
CAG/CTG repeat expansions cause over 13 neurological diseases that remain without a cure. Because longer tracts cause more severe phenotypes, contracting them may provide a therapeutic avenue.
Aeschbach, Lorène, Cinesi, Cinzia, Dion, Vincent, Yang, Bin   +3 more
core   +3 more sources

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR

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
doaj   +1 more source

High‐Resolution Pharyngeal Manometry Assessment of Swallowing in Asymptomatic Myotonic Dystrophy

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 4, August 2025.
While sustained the upper esophageal sphincter relaxation may help maintain swallowing, it hinders MyD patients' ability to recognize their dysphagia, potentially contributing to sudden choking episodes. Early risk management and intervention are necessary for myotonic dystrophy patients, even those unaware of their dysphagia.
Rie Asayama, Kaori Tanaka‐Nishikubo, Keiko Tanaka, Naohito Hato   +3 more
wiley   +1 more source

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal [PDF]

, 2005
To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease.
A. Ferro, A. Sousa, Amos W, Andres A, Brook JD, C. Bettencourt, C. Santos, C. Silva, Costa MC, Coutinho P, Davies J, Gaspar C, Goldman A, Guo SW, Gyurus P, J. Sequeiros, Leone O, Lima M, Lima M, Lima M, M. Lima, M.C. Costa, Maciel P, Maciel P, Nei M, P. Coutinho, P. Maciel, R. Montiel, Raymond M, Rubinsztein DC, Silva MC, Takano H, Takiyama Y, Takiyama Y, Tsuji S, van Alfen N, van Schaik IN, Watkins WS, Zerylnick C   +38 more
core   +1 more source

Matching maternal and paternal experiences underpin molecular thermal acclimation

Molecular Ecology, Volume 34, Issue 15, August 2025.
Abstract The environment experienced by one generation has the potential to affect the subsequent one through non‐genetic inheritance of parental effects. Since both mothers and fathers can influence their offspring, questions arise regarding how the maternal, paternal and offspring experiences integrate into the resulting phenotype.
L. C. Bonzi, J. M. Donelson, R. K. Spinks, P. L. Munday, T. Ravasi, C. Schunter   +5 more
wiley   +1 more source

Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases [PDF]

, 2013
Copyright © 2013 Mohammadmersad Ghorbani et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is ...
Ghorbani, M, Payne, A, Pook, MA, Taylor, SJE   +3 more
core   +4 more sources

Unprecedented Combination of Rare Degenerative Pathologies in an Octogenarian Ex‐Football Player

Neuropathology, Volume 45, Issue 4, August 2025.
ABSTRACT A 79‐year‐old former professional football player presented with language deficits and cognitive changes. A year later, he had difficulty completing sentences, and 3 years after onset, was reduced to one‐word answers. He developed severe apathy and agitation, and became more impulsive.
Shelley L. Forrest, Nusrat Sadia, Mozhgan Khodadadi, Charles Tator, Robin Green, Maria Carmela Tartaglia, Gabor G. Kovacs   +6 more
wiley   +1 more source

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, Wei⁃hong GU, Guo⁃xiang WANG, Kang WANG, Miao JIN, Xiao⁃hui DUAN, Si⁃liu YANG   +6 more
doaj  

Data Mining for Simple Sequence Repeats in Oil Palm Expressed Sequence Tags [PDF]

, 2009
Expressed Sequence Tags or ESTs are small pieces of DNA sequence that are generated by sequencing either one or both ends of an expressed gene. ESTs provide researchers with a quick and inexpensive route for discovering new genes, for obtaining data on ...
Aikkal Riju, Vadivel Arunachalam
core   +1 more source