Results 51 to 60 of about 2,249,082 (272)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

A Spanish Tagset for the CRATER Project [PDF]

open access: yesarXiv, 1994
This working paper describes the Spanish tagset to be used in the context of CRATER, a CEC funded project aiming at the creation of a multilingual (English, French, Spanish) aligned corpus using the International Telecommunications Union corpus. In this respect, each version of the corpus will be (or is currently) tagged.
arxiv  

CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad   +7 more
wiley   +1 more source

Predicting metrical patterns in Spanish poetry with language models [PDF]

open access: yesarXiv, 2020
In this paper, we compare automated metrical pattern identification systems available for Spanish against extensive experiments done by fine-tuning language models trained on the same task. Despite being initially conceived as a model suitable for semantic tasks, our results suggest that BERT-based models retain enough structural information to perform
arxiv  

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas   +24 more
wiley   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte   +13 more
wiley   +1 more source

NATIONAL WORLDVIEW IN BILINGUAL COMMUNICATION

open access: yesVestnik MGIMO-Universiteta, 2013
This article analyses the concept “national and cultural worldview” in the size of bilingual communication, examines peculiarities in mass media texts translation.
V. A. Iovenko
doaj   +1 more source

Pregnancy Outcomes of Targeted Synthetic Disease‐Modifying Antirheumatic Drugs Among Patients With Autoimmune Diseases: A Scoping Review

open access: yesArthritis Care &Research, EarlyView.
Objective Targeted synthetic disease‐modifying antirheumatic drugs (tsDMARDs) have expanded the management of autoimmune diseases, including rheumatic diseases. As the use of these drugs grows, it is important to understand their effects on pregnancy.
Vienna Cheng   +7 more
wiley   +1 more source

Effects of Pharmacologic and Nonpharmacologic Interventions for the Management of Sleep Problems in People With Fibromyalgia: Systematic Review and Network Meta‐Analysis of Randomized Controlled Trials

open access: yesArthritis Care &Research, EarlyView.
Objective Fibromyalgia is a chronic condition characterized by widespread musculoskeletal pain and fatigue. Almost everyone with fibromyalgia has sleep problems. We aimed to evaluate the effectiveness and safety of current interventions for the management of fibromyalgia‐related sleep problems.
Jemma Hudson   +11 more
wiley   +1 more source

Problématique sémantique dans le discours fictionnel équato-guinéen : démémoire discursive dans Bëtápànó (recuerdos) de Juan Riochí Siafá

open access: yesRevue Hybrides, 2023
The novel Bëtápànó (2017) falls within the paradigm of memorial texts. Its memorial nature –recuerdos (recollections) –, the autobiographical writing marked by dictatorship and the changes in meaning highlighted through prediscourses, are concrete enough
Franck Rostov TSAMO DONGMO   +1 more
doaj  

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