Results 121 to 130 of about 1,261,670 (349)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Transport Behavior of Water and Ions Through Positively Charged Nanopores

, 2021
Yichang Liu, Meiqin Cai, Lizhi Jiang, Lin Liu, Jinyu Li   +4 more
openalex   +1 more source

Benchmark study of particle and heavy-ion transport code system using shielding integral benchmark archive and database for accelerator-shielding experiments [PDF]

, 2021
Yosuke Iwamoto, Shintaro Hashimoto, Tatsuhiko Sato, Norihiro Matsuda, Satoshi Kunieda, Yurdunaz Çelik, Naoya Furutachi, Koji Niita   +7 more
openalex   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Environmental concentrations of N-nitrosodiethylamine (NDEA) disturb the Ca2 + and K+ homeostasis in the gills and epidermis of mosquitofish (Gambusia affinis)

Ecotoxicology and Environmental Safety
N-nitrosodiethylamine (NDEA), a nitrogenous disinfection by-product, is notorious for its ubiquitous presence in the environment and its carcinogenic properties. However, its impact on ion homeostasis in aquatic organisms remains underexplored.
Xiaoyu Yan, Wenwen Chen, Xiaohong Song, Yun Ma, Haiqin Wang, Tao Yang, Yanpeng Liang, Honghu Zeng   +7 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

Influence of phloem transport, N-fertilization and ion accumulation on sucrose storage in the taproots of fodder beet and sugar beet [PDF]

, 1996
Thilo Winzer, Gertrud Lohaus, Hans‐Walter Heldt   +2 more
openalex   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Integrating First Principles Calculations and Machine Learning to Study the ReNiO2/Ti3C2 Heterojunctions for Sodium Ion Batteries

Advanced Physics Research
Due to the large size of sodium ions and their slow redox kinetics in electrochemical processes, the sodium ion batteries currently are still far from satisfactory.
Yuanyuan Cui, Chengyu Zhang, Luxin Niu, Jiao Zheng, Xin Liu, Sihan Yang, Yanfeng Gao   +6 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source