Results 41 to 50 of about 43,026 (265)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

The “New Normal” Terminology: A Corpus-Based Study Into Term Variation in COVID-19-Related EU Legislative Texts

Rasprave Instituta za Hrvatski Jezik i Jezikoslovlje, 2023
This paper provides a contrastive analysis of COVID-19-related EU legislative texts with emphasis on term variants. The analysis carried out on a parallel corpus consisting of English and Croatian texts has identified multiple examples of variation of ...
Katja Dobrić Basaneže, Martina Bajčić   +1 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Bamana tales recorded by Umaru Ɲanankɔrɔ Jara: A comparative study based on a Bamana–French parallel corpus

Mandenkan, 2021
The paper presents an analysis of the distribution of autosemantic (meaningful) parts of speech in Bamana and French texts of Bamana tales recorded by Umaru Ɲanankɔrɔ Jara. It is carried out using a Bamana–French parallel corpus.
Andrij Rovenchak
doaj   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Representação gay em corpus literário paralelo Gay representation in parallel literary corpus

Revista Brasileira de Linguística Aplicada, 2010
Este artigo apresenta parte dos resultados de minha pesquisa de doutorado, com foco em como personagens gays e suas realidades de mundo são representados por meio da transitividade (HALLIDAY; MATTHIESSEN, 2004).
Adail Sebastião Rodrigues Júnior
doaj   +1 more source

XDailyDialog: A Multilingual Parallel Dialogue Corpus

Proceedings of the 61st Annual Meeting of the Association for Computational Linguistics (Volume 1: Long Papers), 2023
High-quality datasets are significant to the development of dialogue models. However, most existing datasets for open-domain dialogue modeling are limited to a single language. The absence of multilingual open-domain dialog datasets not only limits the research on multilingual or cross-lingual transfer learning, but also hinders the development of ...
Zeming Liu, Ping Nie, Jie Cai, Haifeng Wang, Zheng-Yu Niu, Peng Zhang, Mrinmaya Sachan, Kang Peng   +7 more
openaire   +2 more sources

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

OpusFilter: A Configurable Parallel Corpus Filtering Toolbox [PDF]

Proceedings of the 58th Annual Meeting of the Association for Computational Linguistics: System Demonstrations, 2020
This paper introduces OpusFilter, a flexible and modular toolbox for filtering parallel corpora. It implements a number of components based on heuristic filters, language identification libraries, character-based language models, and word alignment tools, and it can easily be extended with custom filters.
Mikko Aulamo, Sami Virpioja, Jörg Tiedemann   +2 more
openaire   +2 more sources

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source