Results 71 to 80 of about 45,427 (283)

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Cardoso J, Tonoli CC, Buzzetti BP, Davoli GB, Mattiello-Sverzut AC.   +4 more
europepmc   +2 more sources

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

sj-pdf-2-cmt-10.1177_19433875211055598 – Supplemental Material for Can an App-Based Maxillofacial Trauma Score Predict the Operative Time, ICU Need and Length of Stay?

, 2021
Supplemental Material, sj-pdf-2-cmt-10.1177_19433875211055598 for Can an App-Based Maxillofacial Trauma Score Predict the Operative Time, ICU Need and Length of Stay?
Zeeshan Ahmad (31617), Ashutosh Kumar Singh (11791379), Safal Dhungel (11791382), Simon Holmes (11791385)   +3 more
core   +1 more source

Conductive PMMA/rGO Microfibers via Solution Blow Spinning: Role of Fiber Architecture on Electrical Transport

Journal of Applied Polymer Science, EarlyView.
A multidisciplinary characterization approach combining microscopy, tomography, spectroscopy, and electrical measurements reveals how fiber architecture and network connectivity govern electrical transport in PMMA/rGO microfibers by solution blow spinning.
Clarissa de Paula Dias, Mostafa Gamal, Bruno Sousa da Cunha, Santiago Bermudez, Rafael Travincas, Sérgio Neves Monteiro, Henry Colorado, Édio Pereira Lima Júnior, Carlos E. Castano   +8 more
wiley   +1 more source

Analysis of Particle Number Emissions in a Retrofitted Heavy-Duty Spark Ignition Engine Powered by LPG

Atmosphere
This study aims to examine the particle number (PN) emissions of a retrofitted heavy-duty spark ignition (HD-SI) engine powered by liquefied petroleum gas (LPG) under both steady-state and transient conditions.
Vicente Bermúdez, Pedro Piqueras, Enrique José Sanchis, Brayan Conde   +3 more
doaj   +1 more source

Multivariate Analysis of Hematological Stress Biomarkers and Welfare Domains in Organic and Intensive Pig Farming in Italy: A Pilot Study

Animal Research and One Health, EarlyView.
Intensive or organic farming systems may expose pigs to management or environmental challenges. Our preliminary results concluded that organic farming might enhance adaptive immune function, showing that improvements in welfare can translate into measurable immunological benefits, based on the correlation between welfare assessment and physiological ...
Dorotea Ippolito, Talal Hassan, Antonio Marco Maisano, Stefania Bergagna, Cecilia Guasco, Barbara Miniscalco, Martina Tarantola, Elena Colombino, Claudio Caruso, Ahsan Muhammad, Silvia Mioletti, Laura Tomassone, Massimiliano Tursi, Cristina Vercelli, Giovanni Loris Alborali, Maria Teresa Capucchio   +15 more
wiley   +1 more source

Towards an embodied poetics of cinema: The metaphoric construction of abstract meaning in film

Alphaville: Journal of Film and Screen Media, 2012
Central to Conceptual Metaphor Theory (CMT) is the notion of embodied mind, which states that cognition is shaped by aspects of the body. Human beings make metaphoric use of recurring dynamic patterns of perceptual interactions and motor programmes ...
Maarten Coëgnarts, Peter Kravanja
doaj   +1 more source

sj-pdf-1-cmt-10.1177_19433875211055598 – Supplemental Material for Can an App-Based Maxillofacial Trauma Score Predict the Operative Time, ICU Need and Length of Stay?

, 2021
Supplemental Material, sj-pdf-1-cmt-10.1177_19433875211055598 for Can an App-Based Maxillofacial Trauma Score Predict the Operative Time, ICU Need and Length of Stay?
Zeeshan Ahmad (31617), Ashutosh Kumar Singh (11791379), Safal Dhungel (11791382), Simon Holmes (11791385)   +3 more
core   +1 more source