Results 61 to 70 of about 711,318 (316)

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

Corpus rassemblement de jeunes européens - Logiciel de synthèse

, 2010
Présentation aux jeunes européens du logiciel de synthèse qui reprendra leurs propositions sous forme de tableauEn orthographe adaptee, toilettée ...
Groupe ICOR, Niccolaï, Gerald, Corpus de LAngue Parlée en Interaction   +2 more
core   +1 more source

The FGLOCTweet Corpus: An English tweet-based corpus for fine-grained location-detection tasks

, 2022
Location detection in social-media microtexts is an important natural language processing task for emergency-based contexts where locative references are identified in text data. Spatial information obtained from texts is essential to understand where an
Fernández-Martínez, Nicolás José
core   +1 more source

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

Corpus rassemblement de jeunes européens - Logiciel de synthèse

, 2018
Présentation aux jeunes européens du logiciel de synthèse qui reprendra leurs propositions sous forme de tableauEn orthographe adaptee, toilettée ...
Groupe ICOR, Niccolaï, Gerald, Corpus de LAngue Parlée en Interaction   +2 more
core   +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

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Disparate Responses of Carbonate System in Two Adjacent Subtropical Estuaries to the Influence of Hurricane Harvey – A Case Study

Frontiers in Marine Science, 2020
Two adjacent estuaries in the northwestern Gulf of Mexico (GOM) (Mission–Aransas or MAE and Guadalupe–San Antonio or GE), despite their close proximity and similar extents of freshening caused by Hurricane Harvey, exhibited different behaviors in their ...
Xinping Hu, Hongming Yao, Cory J. Staryk, Melissa R. McCutcheon, Michael S. Wetz, Lily Walker   +5 more
doaj   +1 more source

Partial Scene Reconstruction for Close Range Photogrammetry Using Deep Learning Pipeline for Region Masking

Remote Sensing, 2022
3D reconstruction is a beneficial technique to generate 3D geometry of scenes or objects for various applications such as computer graphics, industrial construction, and civil engineering.
Mahmoud Eldefrawy, Scott A. King, Michael Starek   +2 more
doaj   +1 more source

Corpus Linguistics

, 2017
The chapter analyzes the contribution of CL to the study of dialogue and language as dialogue, with examples from English linguistics and academic discourse studies. CL has extended the possibilities of dialogue analysis and added to its theoretical-methodological perspectives. The chapter provides some background on CL, with special emphasis on spoken
Brysbaert, Marc, Mandera, Pawel, Keuleers, Emmanuel   +2 more
openaire   +5 more sources