Results 201 to 210 of about 182,078 (261)

Genome-Wide Analysis of Copy Number Variations in Three Populations of Nanyang Cattle Using Whole-Genome Resequencing. [PDF]

Genes (Basel)
Dang D, Zhang L, Gao L, Peng L, Rao Y, Yang L.   +5 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study. [PDF]

Diseases
Manto K, Ustun Yilmaz S, Pala Kara Z, Kara H, Tokat F, Akyerli CB, Uras C, Muftuoglu M, Özbek U.   +8 more
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Whole-Genome Resequencing Analysis of Copy Number Variations Associated with Athletic Performance in Grassland-Thoroughbred. [PDF]

Animals (Basel)
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.   +9 more
europepmc   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright, Scotty G. McKay, Jean Ramos Bou, Fen Bao, Vivian B. Truong, Chenyang Li, Li Jiang, Anza B. Memon, E. Mark Haacke, Yulin Ge, Yongsheng Chen   +10 more
wiley   +1 more source

High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches. [PDF]

Ann Lab Med
Kim Y, Lee JS, Kim B, Kim MJ, Cho SI, Chae SW, Shin HS, Lee H, Kim JY, Seong MW.   +9 more
europepmc   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

In Situ Inference of Copy Number Variations in Image-Based Spatial Transcriptomics

Jensen AEV, Crowell H, Pascual Reguant A, Ruano I, Tejpar S, Heyn H, Nilsson M, Marco Salas S.   +7 more
europepmc   +1 more source

ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability. [PDF]

Cell Genom
Nomura J, Zuko A, Kishimoto K, Mutsumine H, Maegawa H, Fukatsu K, Nomura Y, Liu X, Nakai N, ES Library team, Takahashi E, Kouno T, Shin JW, Takumi T.   +13 more
europepmc   +1 more source