Results 21 to 30 of about 49,589 (307)

Diseases of the neuromuscular junction

open access: yesCurrent Opinion in Pharmacology, 2002
The neuromuscular junction is a prototype synapse and it is also the site of well-characterised autoimmune and hereditary disorders. In the presynaptic terminal, voltage-gated potassium channels and voltage-gated calcium channels are subtly altered in genetic disorders and mutations in the enzyme that synthesises acetylcholine have been demonstrated in
McConville, J, Vincent, A
openaire   +3 more sources

Altered Function of the DnaJ Family Cochaperone DNJ-17 Modulates Locomotor Circuit Activity in a Caenorhabditis elegans Seizure Model. [PDF]

open access: yes, 2016
The highly conserved cochaperone DnaJ/Hsp40 family proteins are known to interact with molecular chaperone Hsp70, and can regulate many cellular processes including protein folding, translocation, and degradation.
Jin, Yishi, Takayanagi-Kiya, Seika
core   +2 more sources

Transthoracic ultrasonography as an alternative to respiratory pressures in assessing respiratory muscles strength in patients with neuromuscular disorders

open access: yesEgyptian Journal of Chest Disease and Tuberculosis, 2019
Background Respiratory complications are the chief causes of morbidity plus mortality in patients with neuromuscular diseases (NMD). The diaphragm acts as the main inspiratory muscle during regular breathing, and its weakness predisposes to respiratory ...
Ahmed M Abumossalam   +4 more
doaj   +1 more source

The selectivity and specificity of autophagy in drosophila [PDF]

open access: yes, 2012
Autophagy is a process of cellular self-degradation and is a major pathway for elimination of cytoplasmic material by the lysosomes. Autophagy is responsible for the degradation of damaged organelles and protein aggregates and therefore plays a ...
Chou   +27 more
core   +2 more sources

MG53 Preserves Neuromuscular Junction Integrity and Alleviates ALS Disease Progression [PDF]

open access: yesAntioxidants, 2021
Respiratory failure from progressive respiratory muscle weakness is the most common cause of death in amyotrophic lateral sclerosis (ALS). Defects in neuromuscular junctions (NMJs) and progressive NMJ loss occur at early stages, thus stabilizing and preserving NMJs represents a potential therapeutic strategy to slow ALS disease progression.
Jianxun Yi   +11 more
openaire   +3 more sources

Use of sugammadex in patients with neuromuscular disorders: a systematic review of case reports

open access: yesBMC Anesthesiology, 2019
Background Sugammadex is a modified gamma-cyclodextrin that acts by selectively encapsulating free amino-steroidal neuromuscular relaxants. Several case reports have been published on the use of sugammadex in patients with neuromuscular disorders that ...
Usha Gurunathan   +2 more
doaj   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

open access: yes, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui   +2 more
core   +2 more sources

Neuromuscular junction in health and disease [PDF]

open access: yesBritish Journal of Anaesthesia, 2007
A number of illnesses and other factors can affect the function of the neuromuscular junction (NMJ). These may have an affect at pre- or post-junctional sites. This review outlines the anatomy and the physiology of the NMJ. It also describes the mechanisms and physiological basis of many of the disorders of the NMJ.
openaire   +2 more sources

Transverse myelitis in a myasthenia gravis patient. A case presentation [PDF]

open access: yesRomanian Journal of Neurology, 2016
Myasthenia gravis (MG) is an autoimmune disease caused by the presence of immunoglobulin G (IgG)1 and IgG3 complement activating antibodies against the nicotinic acetylcholine receptor, which affects the neuromuscular junction leading to fluctuating ...
Ruxanda Dana Chirileanu   +4 more
doaj   +1 more source

Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

open access: yesFrontiers in Physiology, 2021
Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions.
Maria Sofia Falzarano   +20 more
doaj   +1 more source

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