Results 61 to 70 of about 397,215 (279)

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

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

DEONTIC MODALITY AND MODALS IN THE LANGUAGE OF CONTRACTS

Comparative Legilinguistics, 2017
The purpose of this paper is to present most typical methods of expressing deontic modality, namely obligation, prohibition and permission in Polish, American and British contracts.
Aleksandra MATULEWSKA
doaj   +1 more source

Utilité du partage des corpus pour l'analyse des interactions en ligne en situation d'apprentissage : un exemple d'approche méthodologique autour d'une base de corpus d'apprentissage

ALSIC: Apprentissage des Langues et Systèmes d'Information et de Communication, 2020
The study of online learning, whether aimed at understanding this form of situated human learning, at evaluating relevant pedagogical scenarios and settings or at improving technological environments, requires the availability of interaction data from ...
Thierry Chanier, Maud Ciekanski
doaj   +1 more source

Corpora for Linguists vs. Corpora for Learners

Educazione Linguistica Language Education, 2019
EL ...
Forti, Luciana, Spina, Stefania
openaire   +2 more sources

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Infusing Cultural Competence Training into the Curriculum: Describing the Development of Culturally Sensitive Training on Dementia Communication

Kaohsiung Journal of Medical Sciences, 2009
The need for training in cultural sensitivity and cultural competence exists at every level of medical care. This discussion reports on an interdisciplinary project to infuse cultural competence training in dementia communication care into nursing and ...
Boyd H. Davis, Mary K. Smith
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

GLI STRUMENTI DI TRADUZIONE E LE RISORSE LINGUISTICHE NELLE TRADUZIONI DAL CROATO ALL’ITALIANO E DALL’ITALIANO AL CROATO

Studia Polensia, 2018
Gli strumenti di traduzione e le risorse linguistiche sono in continuo sviluppo e i traduttori devono essere aggiornati sulle novità nel campo delle tecnologie di traduzione per poter soddisfare le esigenze del mercato. Lo scopo di questo saggio è di
Ivana Lalli Paćelat, Petra Maras
doaj   +1 more source

Utiliser des corpus numériques avec un public Lansad

ALSIC: Apprentissage des Langues et Systèmes d'Information et de Communication, 2020
Since the eighties, the use of corpora for language learning has been defended by researchers, such as Johns (1991). This idea is supported by the assumption that the texts the learners deal with represent an important factor for language learning.
Eva Schaeffer-Lacroix
doaj   +1 more source