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Mechanisms Underlying Muscle-Related Diseases and Aging: Insights into Pathophysiology and Therapeutic Strategies [PDF]

Muscles
Skeletal muscle aging and related diseases are characterized by progressive loss of muscle mass, strength, and metabolic function. Central to these processes is mitochondrial dysfunction, which impairs energy metabolism, redox homeostasis, and ...
Jialin Fan, Zara Khanzada, Yunpeng Xu
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The Neuromuscular Junction: Roles in Aging and Neuromuscular Disease [PDF]

International Journal of Molecular Sciences, 2021
The neuromuscular junction (NMJ) is a specialized synapse that bridges the motor neuron and the skeletal muscle fiber and is crucial for conversion of electrical impulses originating in the motor neuron to action potentials in the muscle fiber. The consideration of contributing factors to skeletal muscle injury, muscular dystrophy and sarcopenia cannot
Shama R. Iyer, Sameer B. Shah, Richard M. Lovering   +2 more
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Myasthenia gravis in clinical practice

Arquivos de Neuro-Psiquiatria, 2022
Background: Myasthenia gravis is largely a treatable disease, but it can result in significant morbidity and even mortality, which can usually be avoided, or at least mitigated, with timely diagnosis and appropriate treatment of the disease.
Eduardo de Paula Estephan, José Pedro Soares Baima, Antonio Alberto Zambon   +2 more
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Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy [PDF]

, 2012
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons.
A Lionikas, AD Ebert, B Wirth, BJ Turner, C Cifuentes-Diaz, Chantal A. Mutsaers, CL Lorson, CM McCann, CM Mutsaers, CS Lobsiger, D Angaut-Petit, Derek Thomson, G Feng, G Valdez, G Vrbova, Gillian Hamilton, GZ Mentis, H Ilieva, Huaibin Cai, J Hegedus, J Pearn, JN Sleigh, Joya E. Nahon, K Talbot, KK Ling, KK Ling, L Kong, LM Murray, LM Murray, LM Murray, LR Fischer, M Ruggui, MC Brown, MR Lunn, R Dengler, S Kariya, S Kariya, S Lefebvre, S Pun, S Saxena, Simon H. Parson, Sophie R. Thomson, SR Thomson, T Yamazaki, TH Gillingwater, Thomas H. Gillingwater, UR Monani, WG Bradley, Z Feng   +48 more
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Plum modulates Myoglianin and regulates synaptic function in D. melanogaster

Open Biology, 2023
Alterations in the neuromuscular system underlie several neuromuscular diseases and play critical roles in the development of sarcopenia, the age-related loss of muscle mass and function.
Virender K. Sahota, Aelfwin Stone, Nathaniel S. Woodling, Jereme G. Spiers, Joern R. Steinert, Linda Partridge, Hrvoje Augustin   +6 more
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Neuromuscular Junction Abnormalities in Mitochondrial Disease [PDF]

Neurology Clinical Practice, 2021
To determine the prevalence of neuromuscular junction (NMJ) abnormalities in patients with mitochondrial disease.Eighty patients with genetically proven mitochondrial disease were recruited from a national center for mitochondrial disease in the United Kingdom. Participants underwent detailed clinical and neurophysiologic testing including single-fiber
Luis P. Braz, Yi Shiau Ng, Gráinne S. Gorman, Andrew M. Schaefer, Robert McFarland, Robert W. Taylor, Doug M. Turnbull, Roger G. Whittaker   +7 more
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Usefulness and Clinical Impact of Whole-Body MRI in Detecting Autoimmune Neuromuscular Disorders

Brain Sciences, 2023
Autoimmune neuromuscular diseases are a group of heterogenous pathologies secondary to the activation of the immune system that damage the structures of the peripheric nerve, the neuromuscular junction, or the skeleton muscle. The diagnosis of autoimmune
Mario Pace, Roberto Cannella, Vincenzo Di Stefano, Antonino Lupica, Paolo Alonge, Giulio Morici, Filippo Brighina, Federica Brancato, Federico Midiri, Massimo Galia   +9 more
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Alteration of the Neuromuscular Junction and Modifications of Muscle Metabolism in Response to Neuron-Restricted Expression of the CHMP2B^intron5 Mutant in a Mouse Model of ALS-FTD Syndrome

Biomolecules, 2022
CHMP2B is a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseases ...
Robin Waegaert, Sylvie Dirrig-Grosch, Haoyi Liu, Marion Boutry, Ping Luan, Jean-Philippe Loeffler, Frédérique René   +6 more
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An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

Biomolecules, 2021
Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause incorrect communication between the nerves and muscles. The specific causes of NMDs are not well known, but most of them are caused by genetic mutations.
Federica Marra, Paola Lunetti, Rosita Curcio, Francesco Massimo Lasorsa, Loredana Capobianco, Vito Porcelli, Vincenza Dolce, Giuseppe Fiermonte, Pasquale Scarcia   +8 more
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NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease

Scientific Reports, 2021
The neuromuscular junction (NMJ) is the peripheral synapse formed between a motor neuron axon terminal and a muscle fibre. NMJs are thought to be the primary site of peripheral pathology in many neuromuscular diseases, but innervation/denervation status ...
Alan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, Thomas J. Cunningham, Giampietro Schiavo, Maria Secrier, Pietro Fratta, James N. Sleigh, Elizabeth M. C. Fisher, Carole H. Sudre   +9 more
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