Results 171 to 180 of about 507,597 (315)

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

Editorial for Special Issue “Genesis and Metallogeny of Non-Ferrous and Precious Metal Deposits”

In recent decades, an increasing number of non-ferrous and precious metal deposits have been discovered all over the world [...
Haozhe Li, Xiaolei Peng, Yunsheng Ren, Sitong Chen, Chan Li, Qun Yang   +5 more
core   +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

Pyroclastic fall deposits

This eVolcano lecture on pyroclastic fall deposits is given by Samantha Engwell (British Geological Survey) and Julia Eychenne (Laboratoire Magmas et Volcans, France).
Engwell, S., Eychenne, J.
core  

Three-Dimensional Characterization of the Collagen-Hydroxyapatite Interaction During Heterotopic Ossification in Healing Rat Achilles Tendons. [PDF]

Small Sci
Sharma K, Silva Barreto I, Dejea H, Rodriguez Fernandez I, Ferreira Sanchez D, Eliasson P, Pierantoni M, Isaksson H.   +7 more
europepmc   +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

SIMS Dating of Granite-Hosted Uranium Deposits in the Xiazhuang Ore Field and Its Geological Significance

Using pitchblende uranium ore GBW04420 as the standard material and through the secondary ion mass spectrometry (SIMS) technical method, the in situ U-Pb isotopic chronology characteristics of the main granite-type uranium deposits in the Xiazhuang ore ...
Mingyi Liu, Xin Zheng, Guoquan Sun, Yu Hou, Mengdi Yang, Xiaorui Zhang, Yaxin Ma, Bailin Wu, Wanying Zhang   +8 more
core   +1 more source

Slow granular corneal dystrophy type 2 exacerbation after SMILE: a bilateral asymmetric case resembling a unique previous unilateral case. [PDF]

Int J Ophthalmol
Yoon SH, Kim SJ, Min JS, Kim TI, Stulting RD, Jun I, Kim EK.   +6 more
europepmc   +1 more source

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source

Accessibility Assessment of the Iron Deposits on the Qinghai–Xizang Plateau: Integrating Transport Networks, Economic Dynamics, and Ecological Constraints

The Qinghai–Xizang Plateau (QXP) is the highest plateau on Earth, with a significant quantity of iron resources that significantly contribute to regional economic development in Western China. However, the exploitation of these iron deposits on the
Chengen Wu, Chonghao Liu, Jianan Zhao, Farui Jiang, Xue Yang   +4 more
core   +1 more source