Results 171 to 180 of about 51,863 (266)

A NAMs-based framework for screening the endocrine-disrupting potential of plastic additives using cross-species molecular docking and <i>Caenorhabditis elegans</i>. [PDF]

Front Toxicol
Chong C, Kim D, Kang K, Choi J.
europepmc   +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

Stabilizer Orthosis Rehabilitation after Bilateral Hip Disarticulation Due to Necrotizing Fasciitis: A Case Report and Literature Review. [PDF]

Prog Rehabil Med
Sato K, Kajiwara Y, Oshima M, Fujii T, Takahata H.   +4 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Rationale and Design of CARDIO-TTRansform, a Phase 3 Trial of Eplontersen in Transthyretin Amyloid Cardiomyopathy. [PDF]

Circ Heart Fail
Masri A, Cappelli F, Davis MK, Fontana M, Garcia-Pavia P, Gillmore JD, Hanna M, Obici L, Solomon SD, Sperry BW, Tahara N, Waddington-Cruz M, Kristen AV, Falk RH, Shah SJ, Nativi-Nicolau J, Viney NJ, Yang Q, Chen J, Tsimikas S, Maurer MS.   +20 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

An integrative analysis reveals the mechanism of plastic stabilizers inducing breast cancer. [PDF]

PLoS Comput Biol
Huo X, Duan X, Huang X, Xue L, Zhao L, Li Y, Zhang X, Zhou N.   +7 more
europepmc   +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

Combined Central Slip and Volar Plate Avulsion Fractures: A Rare Case With Nonsurgical Recovery. [PDF]

J Hand Surg Glob Online
Isgandarlı S, Yapıcı C, Çabukoğlu C.   +2 more
europepmc   +1 more source