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MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders
Neuromuscular disorders (NMD) are a class of progressive disorders that are characterized by wasting of the muscles. Some of the disorders like...
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Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders
Mutations in the TTN gene have been reported to be responsible for a range of neuromuscular disorders, including recessive distal myopathy and...
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The emerging role of complement in neuromuscular disorders
The complement cascade is a key arm of the immune system that protects the host from exogenous and endogenous toxic stimuli through its ability to...
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Measures of Neuromuscular Function
Measures of neuromuscular function are commonly obtained in the research disciplines of aging, disease physiology, and exercise science. The methods...
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Immunohistochemical Analysis of the Drosophila Larval Neuromuscular Junction
Synapses are specialized junctions between cells that mediate neurotransmission to modify brain activity and body function. Studies on synapse...
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A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. We investigated a consanguineous family in which multiple patients...
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β2-Adrenergic Regulation of the Neuromuscular Transmission and Its Lipid-Dependent Switch
β2-Adrenoceptors (β2-ARs) are the most abundant subtype of adrenergic receptors in skeletal muscles. Their activation via a stabilization of...
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Purinergic Tuning of the Tripartite Neuromuscular Synapse
The vertebrate neuromuscular junction (NMJ) is a specialised chemical synapse involved in the transmission of bioelectric signals between a motor...
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Mechanisms underlying altered neuromuscular function in people with DPN
Diabetes alters numerous physiological functions and can lead to disastrous consequences in the long term. Neuromuscular function is particularly...
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Drosophila melanogaster Neuromuscular Junction as a Model to Study Synaptopathies and Neuronal Autophagy
Neuronal synapse dysfunction is a key characteristic of several neurodegenerative disorders, such as Alzheimer’s disease, spinocerebellar ataxias,...
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Antibody Therapies in Autoimmune Neuromuscular Junction Disorders: Approach to Myasthenic Crisis and Chronic Management
Myasthenia gravis (MG) is a neurological autoimmune disorder characterized by muscle weakness and fatigue. It is a B cell–mediated disease caused by...
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Association between physical fitness tests and neuromuscular properties
PurposeWhile various fitness tests have been developed to assess physical performances, it is unclear how these tests are affected by differences,...
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Neuromuscular complications after COVID-19 vaccination: a series of eight patients
BackgroundSeveral neurologic complications have been reported in close temporal association with both severe acute respiratory syndrome coronavirus-2...
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Neuromuscular Function: Intramuscular Electromyography
Intramuscular electromyography (iEMG) enables the detection of propagating action potentials in contracting skeletal muscles and has provided a...
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The Mechanism of α2 adrenoreceptor-dependent Modulation of Neurotransmitter Release at the Neuromuscular Junctions
α2-Adrenoreceptors (ARs) are main G i -protein coupled autoreceptors in sympathetic nerve terminals and targets for dexmedetomidine (DEX), a widely...
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Speech Disorders
Although the term “speech” is generally associated with the motor components of verbal communication, it also denotes the very concept of verbal...
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Can motor imagery balance the acute fatigue induced by neuromuscular electrical stimulation?
PurposeThe combination of motor imagery (MI) and neuromuscular electrical stimulation (NMES) can increase the corticospinal excitability suggesting...
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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous....
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Mechanism of Purinergic Regulation of Neurotransmission in Mouse Neuromuscular Junction: The Role of Redox Signaling and Lipid Rafts
Acetylcholine is the main neurotransmitter at the vertebrate neuromuscular junctions (NMJs). ACh exocytosis is precisely modulated by co-transmitter...
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Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa
Next generation sequencing (NGS)-based tests have become routine first-line investigative modalities in paediatric neurology clinics in many...