Results 161 to 170 of about 383,646 (253)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Editorial: Novel applications of ONT technologies in genomics and transcriptomics

Frontiers in Genetics
Eugenia Poliakov, Ludmila Kaplun, Igor B. Rogozin   +2 more
doaj   +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

Optimizing Single-Cell Long-Read Sequencing for Enhanced Isoform Detection in Pancreatic Islets. [PDF]

Diabetes
Hansen MS, Hill CJ, Sussel L, Wells KL.
europepmc   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

cuteHap: Haplotype-Aware Structural Variant Detection in Phased Long-Read Sequencing Data. [PDF]

Adv Sci (Weinh)
Cao S, Liu Y, Cui M, Gao R, Guo W, Wang G, Wang Y, Jiang T.   +7 more
europepmc   +1 more source

Baseline Neuroinflammation Stratifies TSPO‐PET Response to Disease‐Modifying Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch, Markus Matilainen, Giulia N. Baldrighi, Marjo Nylund, Maija Saraste, Laura Airas   +5 more
wiley   +1 more source

Long-Read Sequencing for Species-Level Resolution of the Equine Gut Microbiota Reveals the Need for Improved Databases. [PDF]

Animals (Basel)
Leduc L, Boucher L, Mach N, Leclère M, Costa M.   +4 more
europepmc   +1 more source

Field Report from Collaborative Research Center 1625: Heterogeneous Research Data Management Using Ontology Representations

Advanced Engineering Materials, EarlyView.
A unified research data management framework for heterogeneous materials data is presented. The system integrates multimodal datasets using ontologies and knowledge graphs, enabling interoperability and FAIR (findable, accessible, interoperable, reusable) data principles. By linking data across scales and workflows, it supports reproducible, Artifitial
Doaa Mohamed, Samuel García Vázquez, Behnam Mardani, Victor Dudarev, Alfred Ludwig, Maribel Acosta, Markus Stricker   +6 more
wiley   +1 more source

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing. [PDF]

HGG Adv
Werren EA, Vats P, Rech GE, Peracchio M, King C, Charnysh EJ, Gorham RD, Audano PA, Robinson PN, Kelly MA, Matson AP, Adams MD, Kalsner L.   +12 more
europepmc   +1 more source