Results 31 to 40 of about 9,500,261 (386)
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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Disease Models & Mechanisms, 2019 A wide range of genetic mouse models is available to help researchers dissect human disease mechanisms. Each type of model has its own distinctive characteristics arising from the nature of the introduced mutation, as well as from the specific changes to
Francesca De Giorgio +3 more
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A Splicing Mutation in the Novel Mitochondrial Protein DNAJC11 Causes Motor Neuron Pathology Associated with Cristae Disorganization, and Lymphoid Abnormalities in Mice [PDF]
, 2014 Mitochondrial structure and function is emerging as a major contributor to neuromuscular disease, highlighting the need for the complete elucidation of the underlying molecular and pathophysiological mechanisms. Following a forward genetics approach with
Douni, E +9 more
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Molecular confirmation of Sarcocystis fayeri in a donkey [PDF]
, 2017 Sarcocystis fayeri is a canine protozoan parasite with an equine intermediate host. Historically classified as an incidental pathogen, recent literature has described the toxic effects of Sarcocystis fayeri in human food poisoning, and highlighted ...
Coultous, Robert M. +4 more
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Sensors, 2023 This cross-sectional study, conducted at a tertiary care hospital’s rehabilitation clinic, aimed to validate Short Physical Performance Battery (SPPB) results obtained through plantar pressure analysis using commercial smart insoles (SPPB-SI) and to ...
Chan Woong Jang +4 more
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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
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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]
, 2016 Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
Azzouz, Mimoun +15 more
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Daratumumab–bortezomib–dexamethasone use in relapsed POEMS syndrome
eJHaem, 2022 POEMS syndrome is a rareparaneoplastic disorder driven by an underlying low level plasma cell dyscrasiaand associated with elevated serum vascular endothelial growth factor (VEGF).
Jahanzaib Khwaja +5 more
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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
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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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