BDNF-dependent modulation of axonal transport is selectively impaired in ALS
Acta Neuropathologica Communications, 2022 Axonal transport ensures long-range delivery of essential cargoes between proximal and distal compartments, and is needed for neuronal development, function, and survival.
Andrew P. Tosolini +5 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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Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]
, 2020 Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib +3 more
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Skeletal Muscle, 2022 Background Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway.
Francesca Magri +16 more
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An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]
, 2013 Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene +11 more
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Clinical outcome measures following plasma exchange for MG exacerbation
Annals of Clinical and Translational Neurology, 2019 Our objective is to report longitudinal results of the MG‐ADL, MG‐Composite, MG‐MMT, and MG‐QoL15 in an open‐label trial of therapeutic plasma exchange in myasthenia gravis.
Shruti M. Raja +5 more
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Nature Communications, 2022 Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist ...
William L. Macken +22 more
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Intraperitoneal Injection of Neonatal Mice
Bio-Protocol, 2023 Administration of substances into neonatal mice is required for early treatment with pre-clinical therapeutics, delivery of recombination-inducing substances, and dosing with viruses or toxins, amongst other things.
Amanda Pocratsky, James Sleigh
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Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]
, 2013 BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H. +4 more
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Profile of sugammadex for reversal of neuromuscular blockade in the elderly: Current perspectives [PDF]
, 2017 The number of elderly patients is increasing worldwide. This will have a significant impact on the practice of anesthesia in future decades. Anesthesiologists must provide care for an increasing number of elderly patients, who have an elevated risk of ...
Bertoncello, Francesco +2 more
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