Results 91 to 100 of about 5,725 (256)

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

Observació d'una àguila marina Haliaeetus albicilla a Mallorca l'hivern 2001-2002 [PDF]

Entre la darrera setmana de desembre de 2001 i la tercera setmana de febrer de 2002, un exemplar immadur d'aguila marina Haliaeetus albicilla va ser vist a la Serra de Tramuntana, Mallorca, volant i alimentant-se amb carronya.
Rebassa, Maties
core  

Utopia and education in the seventeenth century: Bacon’s 'Salomon’s House' and its influence [PDF]

, 2010
New Worlds Reflected provides a significant contribution both to the history of utopian literature and travel, and to the wider cultural and intellectual history of the time, assembling original essays from scholars interested in representations of the ...
Houston, Chloe
core  

Rare birds in Slovenia in 2020 and 2021 – Slovenian Rarities Committee’s Report

Acrocephalus, 2021
Mitja Denac, Dejan Bordjan, Luka Božič, Jurij Hanžel, Milan Vogrin   +4 more
openaire   +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

Neuroendocrine Tumor of the Ampulla of Vater: A Case Report. [PDF]

Cureus, 2023
Aman MS, Das BC, Islam A, Arefin M, Gupta SN.   +4 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Development and optimization of AI algorithms for wrist fracture detection in children using a freely available dataset. [PDF]

Front Pediatr, 2023
Till T, Tschauner S, Singer G, Lichtenegger K, Till H.   +4 more
europepmc   +1 more source

Spartan Daily, February 4, 1935 [PDF]

, 1935
Volume 23, Issue 76https://scholarworks.sjsu.edu/spartandaily/2255/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source