Results 181 to 190 of about 772,148 (335)

Different institutional visions of institutional repositories

open access: yes, 2007
Lorcan Dempsey, Processes and repositories, <em> Lorcan Dempsey&#39;s weblog </em> , October 16, 2007.
openaire   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell   +3 more
wiley   +1 more source

Use of Solr and Xapian in the Invenio document repository software

open access: yes, 2013
Invenio is a free comprehensive web-based document repository and digital library software suite originally developed at CERN. It can serve a variety of use cases from an institutional repository or digital library to a web journal. In order to fully use
Glauner, Patrick O.   +3 more
core  

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large‐Scale, Multi‐Cohort Proteomic Study

open access: yesAnnals of Neurology, EarlyView.
Objective Biomarkers with clear contexts of use are important tools for amyotrophic lateral sclerosis (ALS) therapy development. Understanding their longitudinal trajectory in the untreated state is key to their use as potential markers of pharmacodynamic response.
Oleksandr Dergai   +16 more
wiley   +1 more source

Human Brain Contusions Contain Pathogenic Transmissible Species that Induce Progressive Cognitive Decline and Tau Pathology in Mice

open access: yesAnnals of Neurology, EarlyView.
Objective Traumatic brain injury (TBI) is an established risk factor for dementia, although the underlying mechanisms remain unclear. Our previous research demonstrated that a single severe TBI in wild‐type (WT) mice induces a prion‐like form of tau (tauTBI) that spreads throughout the brain, leading to memory deficits.
Gloria Vegliante   +19 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Identification of biomedical entities from multiple repositories using a specialized metadata schema and search-augmented large language models. [PDF]

open access: yesBMC Res Notes
Kaier K   +9 more
europepmc   +1 more source

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