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
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BMC Neurology, 2020 Background Myasthenia gravis is an autoimmune disease mediated by antibodies against proteins associated with the postsynaptic membrane of the neuromuscular junction. Several drugs may trigger an exacerbation of the disease.
Velina Nedkova-Hristova +2 more
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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
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Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
Case Reports in Genetics, 2020 Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of ...
Manuela Quiroga-Carrillo +3 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
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Synaptic actions of amyotrophic-lateral-sclerosis-associated G85R-SOD1 in the squid giant synapse [PDF]
, 2020 © The Author(s), 2020. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Song, Y.
Song, Yuyu
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Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy
Scientific Reports, 2021 Multifocal motor neuropathy (MMN) is a rare disease with a prevalence of less than 1 per 100,000 people. Intravenous immunoglobulin (IVIG) therapy, performed for a long-term period, has been demonstrated able to improve the clinical picture of MMN ...
Luca Gentile +6 more
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カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]
, 2019 博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
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Diseases of the neuromuscular junction
Current 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 +4 more sources
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
Annals of Clinical and Translational Neurology, 2023 Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry +7 more
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