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Clinico-genetic characterization of spastic ataxia
Clinico-genetic characterization of spastic ataxia
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Figshare
2022-07-28 更新
2026-04-28 收录
痉挛性共济失调
遗传性痉挛性截瘫
数据链接:
https://figshare.com/articles/dataset/Clinico-genetic_characterization_of_spastic_ataxia/20392284
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资源简介:
Clinical and MRI data of a cohort of Taiwanese complicated HSP patients
应用场景:
创建时间:
2022-07-28
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Recommendations on the assessment tools for clinical use in HSP patients.
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Recommendations on the assessment tools for clinical use in HSP patients.
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dataset related to article: "Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype"
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Dataset contains Genetic data in VCF format of an Italian patient with spastic ataxia phenotype
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Additional file 1 of Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands
遗传性痉挛性截瘫
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Additional file 1. Variables and answer options survey.
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Additional file 1 of Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands
遗传性痉挛性截瘫
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Additional file 1. Appendix 1. Overview of variables and answers.
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Table_2_A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism.docx
遗传性痉挛性截瘫
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IntroductionHereditary spastic paraplegias (HSPs) are genetic neurodegenerative diseases. The most common form of pure HSP that is inherited in an autosomal dominant manner is spastic paraplegia type
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