Results 91 to 100 of about 245,637 (381)

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

A novel DNM2 variant associated with centronuclear myopathy: a case report

Frontiers in Genetics
DNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin ...
Martina Rimoldi, Daniele Velardo, Simona Zanotti, Michela Ripolone, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi   +12 more
doaj   +1 more source

Profile of sugammadex for reversal of neuromuscular blockade in the elderly: Current perspectives [PDF]

, 2017
The number of elderly patients is increasing worldwide. This will have a significant impact on the practice of anesthesia in future decades. Anesthesiologists must provide care for an increasing number of elderly patients, who have an elevated risk of ...
Bertoncello, Francesco, Carron, Michele, Ieppariello, Giovanna   +2 more
core   +1 more source

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]

, 2020
Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib, Kempa, Stefan, Langer, Henning Tim, Spuler, Simone   +3 more
core   +2 more sources

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Preclinical common data elements for general pharmacological studies (pharmacokinetic sample collection, tolerability, and drug administration). A report of the TASK3‐WG1A General Pharmacology Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2023
Abstract Growing concerns over rigor and reproducibility of preclinical studies, including consistency across laboratories and translation to clinical populations, have triggered efforts to harmonize methodologies. This includes the first set of preclinical common data elements (CDEs) for epilepsy research studies, as well as Case Report Forms (CRFs ...
Lisa Coles, Patrick A. Forcelli, Karine Leclercq, Anna‐Maria Katsarou, Brian D. Klein, Heidrun Potschka, Rudiger Koehling, Lauren Harte‐Hargrove, Aristea S. Galanopoulou, Cameron S. Metcalf   +9 more
wiley   +1 more source

Virtual Buddy: Redefining Conversational AI Interactions for Individuals with Hand Motor Disabilities [PDF]

Adjunct Proceedings of the 36th Annual ACM Symposium on User Interface Software and Technology. 2023. (pp. 1-3)
Advances in artificial intelligence have transformed the paradigm of human-computer interaction, with the development of conversational AI systems playing a pivotal role. These systems employ technologies such as natural language processing and machine learning to simulate intelligent and human-like conversations.
arxiv   +1 more source

Newcomb-Benford Law in Neuromuscular Transmission: Validation at Hyperkalemic Conditions [PDF]

arXiv, 2023
Recently, we demonstrated the validity of anomalous numbers law, known as Newcomb-Benford's law, at the mammalian neuromuscular transmission, considering different extracellular calcium concentrations arXiv:2002.01986. The present work continues to examine how alterations in extracellular solution modulate the first digit law in the context of the ...
arxiv  

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]

, 2013
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene, Chamberlain, Jeffrey S, Darabi, Radbod, Ervasti, James M, Filareto, Antonio, Iacovino, Michelina, Kyba, Michael, Mayerhofer, Timothy, McIvor, R Scott, Parker, Sarah, Perlingeiro, Rita CR, Schaaf, Tory   +11 more
core   +2 more sources

Engineering Assembloids to Mimic Graft‐Host Skeletal Muscle Interaction

Advanced Healthcare Materials, EarlyView.
This study develops a graft‐host skeletal muscle assembloid model combining neuromuscular organoids with tissue‐engineered constructs. Pre‐seeding decellularized muscles with myogenic cells enhances cell migration and axon invasion from the organoid. The model exhibits regenerative capacity following acute damage, advancing the understanding of human ...
Lucia Rossi, Beatrice Auletta, Luigi Sartore, Marco La Placa, Giada Cecconi, Pietro Chiolerio, Edoardo Maghin, Silvia Angiolillo, Eugenia Carraro, Onelia Gagliano, Cecilia Laterza, Nicola Elvassore, Martina Piccoli, Anna Urciuolo   +13 more
wiley   +1 more source