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检索条件"机构=Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre"
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Targeting muscle to treat Charcot-Marie-Tooth disease
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Neural Regeneration Research 2024年 第8期19卷 1653-1654页
作者： David Villarroel-Campos James N.Sleigh department of neuromuscular diseases and ucl queen square motor neuron disease centre UCL Queen Square Institute of NeurologyUniversity College LondonLondonUK UK Dementia Research Institute University College LondonLondonUK
Charcot-Marie-Tooth disease(CMT)is a hereditary peripheral neuropathy causing muscle weakness/wasting and sensory dysfunction predominantly in limb *** patients display gait abnormalities,foot deformities,loss of sens... 详细信息
来源： 维普期刊数据库 维普期刊数据库 同方期刊数据库 同方期刊数据库 评论
A novel variant of GALC in a familial case of Krabbe disease:Insights from structural bioinformatics and molecular dynamics simulation
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Genes & diseases 2023年 第6期10卷 2263-2266页
作者： Ikram Ullah Muhammad Waqas Muhammad Ilyas Sobia Ahsan Halim Akmal Ahmad Natalia Dominik Wahid Ullah Muhammad Abbas Muhammad Aamir Henry Houlden Stephanie Efthymiou Ajmal Khan Ahmed Al-Harrasi centre for Omic Sciences Islamia College University PeshawarPeshawarKhyber Pakhtunkhwa 25120Pakistan department of Biotechnology and Genetic Engineering Hazara UniversityMansehraDhodial 21120Pakistan Natural and Medical Sciences Research Center University of NizwaNizwa 616Sultanate of Oman department of Bioengineering University of Engineering and Applied SciencesSwatKhyber Pakhtunkhwa 19060Pakistan department of neuromuscular Disorders UCL Queen Square Institute of NeurologyLondon WC1N 3BGUnited Kingdom
Krabbe disease or globoid cell leukodystrophy(GLD;MIM#245200)is a rare and fatal lysosomal storage disease with an autosomal recessive mode of inheritance that results from the deficiency of galactocerebrosidase(GALC;... 详细信息
来源： 维普期刊数据库 维普期刊数据库 评论
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