Results 111 to 120 of about 461,814 (280)

Paraneoplastic Muscle and Neuromuscular Junction Diseases

Neuropsychiatric Investigation, 2008
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Filiz Koç, Deniz Yerdelen
doaj  

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Hyperactive KIF5A in Neurodegeneration

Cytoskeleton, EarlyView.
ABSTRACT The highly polarised morphology of neurons and the sheer length of their axons make transport of cargoes throughout the cell a formidable task. Decades of evidence obtained from genetic studies on patients and animal models highlight deficits in axonal transport as a recurrent cause, or early contributing factor, in a plethora of ...
David Villarroel‐Campos, James N. Sleigh   +1 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission.

, 2014
Background and Objective: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused by malfunction of the neuromuscular junction.
Chaouch A, Müller JS, Huebner A, PALMIERI, Luigi, Porcelli V, SCARCIA, PASQUALE, Griffin H, Edvardson S, Beeson D, PIERRI, CIRO LEONARDO, Straub V, Cossins J, Töpfa A, Bushby K, Elpeleg O, Abicht A, Senderek J, DE GRASSI, ANNA, Horvath R, Lochmüller H., Laval SH, Cox D, von der Hagen M, Palace J, Evangelista T   +24 more
core   +1 more source

Development of a Zebrafish Embryo‐Based Test System for Thyroid Hormone System Disruption: 3Rs in Ecotoxicological Research

Environmental Toxicology and Chemistry, EarlyView.
Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz, Melanie Blanc‐Legendre, Maximilian Rinderknecht, Laura Behnstedt, Sara Coordes, Luisa Reger, Sacha Sire, Xavier Cousin, Thomas Braunbeck, Lisa Baumann   +9 more
wiley   +1 more source

Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J

Stem Cell Research
DOK7-related Congenital Myasthenic Syndrome (CMS) is a rare genetic neuromuscular junction disorder. This is one of the most common of the recessive forms of CMS, often presenting with more static proximal weakness (hence also referred to as limb girdle ...
B. Malique Jones, Miao Xu, Jizhong Zou, Chengyu Liu, Yaqun Zou, Pankaj Pathak, Richa Madan Lomash, Rodica Stan, Carsten G. Bönnemann, Catherine Z. Chen   +9 more
doaj   +1 more source

Antibody kinetics against tetanus toxoid before and after primary vaccination of foals

Equine Veterinary Journal, EarlyView.
Abstract Background Vaccination recommendations for foals against Clostridium tetani vary. Available studies assessing foal immune responses, maternal antibody interference, or individual variation often used small foal numbers. Objectives To quantify antibody responses after tetanus vaccination in foals and explore associations with passively ...
Katharina Olbrich, Monica Venner, Bettina Wagner   +2 more
wiley   +1 more source

Analgesic use, safety and pharmacokinetics of acetaminophen in equids: A structured scoping review

Equine Veterinary Journal, EarlyView.
Abstract Background Despite its frequent use in equine clinical practice, scientific data on the use of acetaminophen in horses remain limited. Objective To map and critically appraise the available evidence on the analgesic use, safety and pharmacokinetics of acetaminophen in horses. Study Design Structured scoping review.
Francisco Medina‐Bautista, Juan Manuel Serrano‐Rodríguez, María del Mar Granados   +2 more
wiley   +1 more source

Artificial structures for human‐machine interfaces with closed‐loop interaction

FlexMat, EarlyView.
Artificial structures bridge sensing and feedback in closed‐loop human‐machine interfaces by providing geometry‐enabled mechanical and functional programmability. This review maps the role of artificial structures in diverse sensing modalities and feedback strategies, and illustrates their integration into closed‐loop interaction systems, highlighting ...
Taiqi Hu, Taisong Pan, Siqi Chen, Yiting Zhang, Yuan Lin   +4 more
wiley   +1 more source