Results 61 to 70 of about 64,710 (311)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Analysis of the Interannual Variability of Pacific Swell Pools
Journal of Marine Science and Engineering, 2023 The investigation of the propagation of swells throughout the ocean has long been a subject of significant interest in physical oceanography. This paper investigates the interannual variability of the Pacific swell pools and examines the factors ...
Xin Zhang +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 +16 more
wiley +1 more source
Jurnal Teknik Sipil, 2019 Karakteristik dinamika seas dan swell di sepanjang perairan Laut Cina Selatan-Teluk Jakarta pada waktu terjadi Badai Hagibis (18–27 November 2007) dikaji dengan menggunakan metode pemodelan spektrum gelombang untuk mengetahui kontribusi gelombang yang ...
Nining Sari Ningsih +3 more
doaj +1 more source
[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich +19 more
wiley +1 more source
Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi +8 more
wiley +1 more source
Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle +4 more
wiley +1 more source
Characterization of Wind-Sea- and Swell-Induced Wave Energy along the Norwegian Coast
Atmosphere, 2020 The necessity to reduce C O 2 emissions in combination with the rising energy demand worldwide makes the extensive use of renewable energy sources increasingly important.
Konstantinos Christakos +5 more
doaj +1 more source
Power Smoothing Control of a Grid-Connected Marine Current Turbine System Using Supercapacitors [PDF]
, 2013 Les variations de la vitesse des courants marins induisent généralement de grandes fluctuations de la puissance produite par une hydrolienne. La houle est considérée comme principale source de variation à très court terme des vitesses de courants.
SCUILLER, Franck +4 more
core
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru +13 more
wiley +1 more source