Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]
, 2019 BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria +9 more
core +1 more source
Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans [PDF]
, 2017 The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various ...
A De Luca +81 more
core +2 more sources
Frontiers in Immunology, 2020 Toll-like receptor (TLR)-mediated innate immune responses are critically involved in the pathogenesis of myasthenia gravis (MG), an autoimmune disorder affecting neuromuscular junction mainly mediated by antiacetylcholine receptor antibodies ...
Federica Bortone +9 more
doaj +1 more source
Facilitatory actions of guanidine on synaptic transmission in mammalian brain slices [PDF]
, 1979 Guanidine administration may be beneficial in the treatment of amyotrophic lateral sclerosis and related diseases; however, the actions of guanidine on the mammalian central nervous system have not been investigated.
Galvan, Martin +2 more
core +1 more source
Serum levels of matrix metalloproteinases-2 and-9 and their tissue inhibitors in inflammatory neuromuscular disorders [PDF]
, 2006 We monitored serum levels of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) before and during intravenously applied immunoglobulin (IVIG) therapy in 33 patients with chronic immune-mediated neuropathies and myopathies and 15 ...
B.G.H. Schoser +15 more
core +1 more source
Recognising the potential of large animals for modelling neuromuscular junction physiology and disease [PDF]
, 2022 The aetiology and pathophysiology of many diseases of the motor unit remain poorly understood and the role of the neuromuscular junction (NMJ) in this group of disorders is particularly overlooked, especially in humans, when these diseases are ...
Boehm, Ines +3 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 +9 more
doaj +1 more source
Myasthenia Gravis Diagnosis with Surface-enhanced Raman Spectroscopy [PDF]
arXiv, 2022 This study investigates the application of surface-enhanced Raman spectroscopy (SERS) as a diagnostic tool for myasthenia gravis, a severe neuromuscular disorder characterized by muscle weakness and fatigue. Blood serum samples were analyzed using SERS substrates embedded with 5 nm gold nanoparticles, resulting in significant Raman signal enhancement ...
arxiv
Neuromuscular Diseases and Rehabilitation [PDF]
, 2017 Neuromuscular diseases (NMDs) are a heterogeneous group of diseases that are inherited or acquired, resulting from an abnormality in the anterior horn motor cells, peripheral nerves, neuromuscular junctions, or ...
Demir, Yasemin Parlak
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PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders
MusclesAn 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi +18 more
doaj +1 more source