Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
第一作者:
Francesco,Mari
第一单位:
Pediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Viale Pieraccini 24, 50139, Florence, Italy.
作者:
主题词
青少年(Adolescent);成年人(Adult);脑(Brain);儿童(Child);女(雌)性(Female);遗传关联研究(Genetic Association Studies);人类(Humans);磁共振成像(Magnetic Resonance Imaging);混合功能氧化酶类(Mixed Function Oxygenases);突变, 误义(Mutation, Missense);蛋白质结构, 三级(Protein Structure, Tertiary);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary)
DOI
10.1007/s10048-018-0538-8
PMID
29423566
发布时间
2020-06-23
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Neurogenetics
123-130页
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