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DYSTROPHY: 作品数：105被引量：119H指数：6; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：高喜容肖勇彭小明张帆黄维清更多>>; 相关机构：第四军医大学西京医院湖南省儿童医院北京市眼科研究所沈阳药科大学更多>>; 相关期刊：更多>>; 相关基金：国家自然科学基金福建省自然科学基金国家高技术研究发展计划国家重点基础研究发展计划更多>>

The remarkable effects of the ionized medical water Asea®in 3 boys with Duchenne dystrophy:Three case reports: 《World Journal of Methodology》2025年第3期232-240,共9页Andrei-Lucian Drăgoi Roxana-Maria Nemeș; BACKGROUND Duchenne muscular dystrophy(DMD)is a severe lethal X-linked monogenic recessive congenital muscular dystrophy caused by various types of mutations in the dystrophin gene(DG).It is one of the most common hum...; 关键词：Asea redox supplement oral solution Duchenne muscular dystrophy CORTICOSTEROIDS NRF2 and NF-kB nuclear transcription factors NRF2 selective activation Case report

Assessment of tomographic parameters and detection of subclinical edema in Fuchs’endothelial corneal dystrophy pre-cataract surgery: 《International Journal of Ophthalmology(English edition)》2025年第4期590-597,共8页João Alves-Ambrósio Vítor Miranda Catarina Pestana Aguiar João Chibante-Pedro Inês Almeida; AIM:To assess tomographic changes and subclinical edema detection in Fuchs’endothelial corneal dystrophy(FECD)through Scheimpflug tomography in a group of phakic patients contemplating cataract surgery.METHODS:A retr...; 关键词：anterior eye segment CORNEA ENDOTHELIUM CORNEAL Fuchs’endothelial dystrophy tomography

Identification of AAV serotypes for gene therapy in Krabbe iPSCs-derived brain organoids: 《Genes & Diseases》2025年第1期144-147,共4页Yafeng Lv Zhi Cui Hongbo Li Jing Wang Mulan Wei Yuanlang Hu Xun Li Chunyu Cao Ye Zhang Wei Wang; funded by grants from the Beijing Municipal Science&TechnologyCommission(China)(No.Z211100002921005 to W.W.);National High-Level Hospital Clinical Research Funding(China)(No.2022-NHLHCRF-PY-12 to W.W.);Hubei Provincial Department of Education's Scientific and Technological Research Project(China)(No.Q20211207 to Y.L.);Yichang Medical and Health Science and Technology Project(Hubei,China)(No.A22-2-069 to Y.L.);the Open Foundation of Hubei Province Key Laboratory of Tumor Microenvironment and Immunotherapy(China)(No.2023KZL08 to Y.L.).; Krabbe disease,also known as globoid cell leukodystrophy,is a rare lysosomal storage disorder.It is primarily caused by mutations in the GALC gene on chromosome 14q31,leading to GALC enzyme deficiency in lysosomes.Thi...; 关键词：AAV DYSTROPHY diseases

Gene therapy in advanced metachromatic leukodystrophy: tempering expectations: 《Protein & Cell》2025年第1期12-15,共4页Daphne H.Schoenmakers Shanice Beerepoot Laura A.Adang Marije A.B.C.Asbreuk Caroline G.Bergner Annette E.Bley Jaap-Jan Boelens Valeria Calbi Alejandra Darling Erik Eklund Ángeles García Cazorla Sabine W.Grønborg Samuel Groeschel Peter M.van Hasselt Carla E.M.Hollak Claire Horgan Simon Jones Tom de Koning Lucia Laugwitz Caroline Lindemans Pascal Martin Fanny Mochel AndreasØberg Dipak Ram Caroline Sevin Ludger Schöls Ayelet Zerem Nicole I.Wolf Francesca Fumagalli; Recently Zhang et al.(2024) published their study entitled “Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: A long-term follow-up pilot study....; 关键词：DYSTROPHY STABILIZATION

Cellular pathophysiology of Duchenne muscular dystrophy: insights from a novel rhesus macaque model: 《Signal Transduction and Targeted Therapy》2025年第1期5-6,共2页Alessandra Moretti Christian Kupatt Eckhard Wolf; supported by the ForTra gGmbH für Forschungstransfer der EKFS(2018_T20;2022_EKSE.41);A.M.and C.K.by the European Research Council(ERC,101141820 and 101021043);E.W.by the Leducq Foundation(Network 23CVD01).; In a recent study published in Cell,Ren and colleagues1 present a new rhesus macaque(Macaca mulatta)model for Duchenne muscular dystrophy(DMD)and a comprehensive single-cell analysis of skeletal muscle,providing detai...; 关键词：DYSTROPHY DUCHENNE MUSCULAR

Targeted therapy outcomes in acrodermatitis continua of Hallopeau: A systematic review被引量：1: 《Journal of Biomedical Research》2024年第6期640-642,共3页Chaojing Zhou Yiyun Hou Yufei Wang Jiliang Lu Yamei Gao Zhiqiang Yin; supported by the National Natural Science Foundation of China(Grant Nos.82073439 and 82373475).; Dear Editor,Acrodermatitis continua of Hallopeau(ACH),a rare and chronic variant of pustular psoriasis,is characterized by atrophic skin changes,sterile pustules,onychodystrophy,and osteolysis of the distal phalanges ...; 关键词：DERMATITIS DRUGS DYSTROPHY

Clinical outcome of sequential bilateral pediatric penetrating keratoplasty (PKP) in patients with corneal dystrophies in South India: 《Advances in Ophthalmology Practice and Research》2024年第4期216-219,共4页Rekha Gyanchand B.Mamatha Salma Mohd Iqbal Tabani Rajan Sharma Ashok Sharma; Dear Editor,Penetrating keratoplasty(PKP)in pediatric corneal blindness(<18 years of age)is the standard surgical procedure for visual rehabilitation in full thickness corneal scarring and to avoid deprivation amblyop...; 关键词：CORNEAL PEDIATRIC DYSTROPHY

Thiel-Behnke Corneal Dystrophy in a Young Man in Denmark—A Case Report: 《Open Journal of Ophthalmology》2024年第3期208-217,共10页Sara Bøgelund Rasmussen Anders Peter Søndergaard; Background: This case report presents a case of bilateral Thiel-Behnke corneal dystrophy in Denmark. Thiel-Behnke is an autosomal dominant inherited epithelial-stromal TGFBI dystrophy causing visual impairment. Method...; 关键词：Thiel-Behnke Corneal Dystrophy Thiel-Behnke Corneal Dystrophy Honeycomb Dystrophy CORNEA

Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family: 《Maternal-Fetal Medicine》2024年第3期131-133,共3页Jia Zhou Hui Xiong Jingmin Yang Xiaona Fu Luming Sun; supported by National Key Research and Development Program of China(No.2022YFC2704700,2022YFC2704703 to L.M.S.);Shanghai Municipal Science and Technology Commission(No.21Y11907500,23DZ2303400 to L.M.S.);National Natural Science Foundation of China(No.82071656 to L.M.S.);NationalNatural Science Foundation of China(No.82171393 to H.X.).; Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring a...; 关键词：MAPPING MUSCULAR DYSTROPHY

Abnormal expression of Tau in damaged oligodendrocytes of HLD1 mice: 《Neural Regeneration Research》2024年第7期1405-1406,共2页Tomohiro Torii; Patients with hypomyelinating leukodystrophies(H LDs),multiple sclerosis(MS),and leukodystrophies including Aicardi-Goutieres syndrome,adrenoleukodystrophy,Alexander disease,Canavan disease,cerebrotendinous xanthomato...; 关键词：DYSTROPHY cytes Patients

DYSTROPHY