Results 161 to 170 of about 7,947,893 (291)

Long-read sequencing for neurological disorders: opportunities, challenges, and future directions. [PDF]

Neurol Sci
Geiger H, Furuta Y, Perera BLA, Stewart R, Tinker RJ, Phillips JA.   +5 more
europepmc   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]

Mol Genet Genomic Med
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

Long-Read Sequencing as an Interpretive Layer for Spatial Biology

Spatial transcriptomics has enabled unprecedented localization of gene expression within tissues and environments, but most spatial workflows rely on short-read sequencing that collapses transcript structure and obscures isoform diversity, allelic ...
Ivan Lebedev
core   +3 more sources

Untangling the Copy Number Variation at the Basis of Belted Phenotypes in Cattle Using Long-Read Sequencing. [PDF]

Anim Genet
Hogers RAH, Bosse M, Rattink AP, González-Prendes R, Gòdia M, Laport K, Groenen MAM, Crooijmans RPMA, Bouwman AC.   +8 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease. [PDF]

Brain
Akçimen F, Daida K, Lange LM, Moller A, Miano-Burkhardt A, Malik L, Paquette K, Alvarez Jerez P, Mingle J, Baker B, Meredith M, Kouam C, Jarreau P, Markham A, Anderson J, Jain M, Chaisson M, Cookson M, Casey B, Iwaki H, Bandres-Ciga S, Saffie-Awad P, Nalls MA, Fang ZH, Singleton AB, Blauwendraat C, Billingsley KJ.   +26 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Protocol for haplotype-resolved structural variant detection via long-read sequencing using cuteHap. [PDF]

STAR Protoc
Cao S, Wu C, He Y, Jiang T.
europepmc   +1 more source