Results 71 to 80 of about 10,200 (202)

Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing

Psychiatry and Clinical Neurosciences, EarlyView.
Aim The genetic architecture of bipolar disorder (BD) remains incompletely understood despite extensive genomic studies. Postzygotic mosaic variants have emerged as promising contributors to BD; however, the landscape of such variants in the BD brain has yet to be elucidated.
Masaki Nishioka, Zen‐ichi Tanei, Yuko Saito, Maho Morishima, Mizuki Hino, Kanako Mori, Atsuko Nagaoka, Risa Shishido, Rie Saito, Hideaki Kitamura, Akito Nagakura, Araki Kimura, Shuji Iritani, Kenichi Oshima, Akiyoshi Kakita, Yasuto Kunii, Shigeo Murayama, Tadafumi Kato   +17 more
wiley   +1 more source

Expanding the Spectrum of Canine Diffuse Large B‐Cell Lymphoma Genetic Aberrations Through Whole Genome Sequencing Analysis

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Diffuse large B‐cell lymphoma (DLBCL) is one of the most prevalent haematological malignancies in both humans and dogs, characterised in both species by significant clinical heterogeneity and limited prognostic predictability. With the introduction of next‐generation sequencing (NGS) technologies in veterinary medicine over the past decade ...
Antonella Fanelli, Eugenio Mazzone, Diana Giannuzzi, Laura Marconato, Luca Aresu   +4 more
wiley   +1 more source

Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the TRACK‐FA Study

Annals of Neurology, Volume 98, Issue 2, Page 386-397, August 2025.
Objective We aimed to quantify differences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and disease stage, including for the first time in young children. Methods TRACK‐FA is the largest prospective, longitudinal, multi‐modal neuroimaging study in Friedreich ataxia to date.
Nellie Georgiou‐Karistianis, Louise A. Corben, Eric F. Lock, Helena Bujalka, Isaac Adanyeguh, Manuela Corti, Dinesh K. Deelchand, Martin B. Delatycki, Imis Dogan, Jennifer Farmer, Marcondes C. França Jr., Anthony S. Gabay, William Gaetz, Ian H. Harding, James Joers, Michelle A. Lax, Jiakun Li, David R. Lynch, Thomas H. Mareci, Alberto R. M. Martinez, Massimo Pandolfo, Marina Papoutsi, Richard G. Parker, Kathrin Reetz, Thiago J.R. Rezende, Timothy P. Roberts, Sandro Romanzetti, David A. Rudko, Susmita Saha, Jörg B. Schulz, Sub H. Subramony, Veena G. Supramaniam, Christophe Lenglet, Pierre‐Gilles Henry   +33 more
wiley   +1 more source

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

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

THE STUDY OF GENETIC MARKERS ASSOCIATED WITH PRIMARY ENDOTHELIAL CORNEAL DYSTROPHY (FUCHS)

Офтальмохирургия, 2017
Purpose. To assess the frequency of the marker alleles at single polymorphisms rs613872, rs17595731 and CTG18.1 trinucleotide repeat expansion in Russian patients with Fuchs’ endothelial corneal dystrophy (FECD).Material and methods.
B. E. Malyugin, O. P. Antonova, L. O. Skorodumova, E. I. Sharova, O. V. Selezneva, S. A. Danilenko, E. S. Kostryukova   +6 more
doaj  

Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report

Annals of Movement Disorders, 2020
DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner.
Pooja Sharma, Raja G Shaikh, Uzma Shamim, Vaishakh Anand, Biswaroop Chakrabarty, Sheffali Gulati, Akhilesh K Sonakar, Istaq Ahmad, Ajay Garg, Achal K Srivastava, Mohammed Faruq   +10 more
doaj   +1 more source

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

The central role of DNA damage and repair in CAG repeat diseases

Disease Models & Mechanisms, 2018
Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a specific threshold.
Thomas H. Massey, Lesley Jones
doaj   +1 more source

Transient Interdomain Interactions Modulate the Monomeric Structural Ensemble and Self‐Assembly of Huntingtin Exon 1

Advanced Science, Volume 12, Issue 27, July 17, 2025.
Polyglutamine (polyQ) tract expansion (≥ 36 amino acids) within the N‐terminal region of the Huntingtin protein (Httex1) causes Huntington's disease (HD), for which the underlying causes are not well‐understood. The authors performed computer simulations to understand the cause of HD at the molecular level.
Priyesh Mohanty, Tien Minh Phan, Jeetain Mittal   +2 more
wiley   +1 more source